(used for variant description)
(last modified January 27, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001144967.2 in the NEDD4L gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029954.1, covering NEDD4L transcript NM_001144967.2.
(upstream sequence)
. . . . g.5043
gcgcgcagtgagaggcgccggggctgccgcccggtgctcggcg c.-241
. . . . . . g.5103
cgctctcgggagccgcccgcccgctggtcccgcagccttccgggaggaagcggtgccggc c.-181
. . . . . . g.5163
agcgtccagggcgcgctctcgggcaccctcacctgccggcgcccggccgcttacccggca c.-121
. . . . . . g.5223
gggcgtgcgcagggtagggtgcgggaccggggggacctggaggcagaggggagaaccggc c.-61
. . . . . . g.5283
cgtccgcgccgcagcacagccgctgggagcgcctcagaccccgcgcggggcgccggctcc c.-1
. . . . | 02 . g.126422
ATGGCGACCGGGCTCGGGGAGCCGGTCTATGGACTTTCCGAAGACGAG | GGAGAGTCCCGT c.60
M A T G L G E P V Y G L S E D E | G E S R p.20
. . . . . . g.126482
ATTCTCAGAGTAAAAGTTGTTTCTGGAATTGATCTCGCCAAAAAGGACATCTTTGGAGCC c.120
I L R V K V V S G I D L A K K D I F G A p.40
| 03 . . . . . . g.206107
AG | TGATCCGTATGTGAAACTTTCATTGTACGTAGCGGATGAGAATAGAGAACTTGCTTTG c.180
S | D P Y V K L S L Y V A D E N R E L A L p.60
. . | 04 . . . . g.209557
GTCCAGACAAAAACAATTAAAAAG | ACACTGAACCCAAAATGGAATGAAGAATTTTATTTC c.240
V Q T K T I K K | T L N P K W N E E F Y F p.80
| 05 . . . . . | 06. g.276607
AGG | GTAAACCCATCTAATCACAGACTCCTATTTGAAGTATTTGACGAAAATAGACTG | ACA c.300
R | V N P S N H R L L F E V F D E N R L | T p.100
. . . . | 07 . g.283059
CGAGACGACTTCCTGGGCCAGGTGGACGTGCCCCTTAGTCACCTTCCG | ACAGAAGATCCA c.360
R D D F L G Q V D V P L S H L P | T E D P p.120
. . . . . | 08 . g.283864
ACCATGGAGCGACCCTATACATTTAAGGACTTTCTCCTCAGACCAAGAAG | TCATAAGTCT c.420
T M E R P Y T F K D F L L R P R S | H K S p.140
. . . . . . g.283924
CGAGTTAAGGGATTTTTGCGATTGAAAATGGCCTATATGCCAAAAAATGGAGGTCAAGAT c.480
R V K G F L R L K M A Y M P K N G G Q D p.160
. . . | 09 . . . g.285645
GAAGAAAACAGTGACCAGAGGGATGACATGGAG | CATGGATGGGAAGTTGTTGACTCAAAT c.540
E E N S D Q R D D M E | H G W E V V D S N p.180
. . . . . . g.285705
GACTCGGCTTCTCAGCACCAAGAGGAACTTCCTCCTCCTCCTCTGCCTCCCGGGTGGGAA c.600
D S A S Q H Q E E L P P P P L P P G W E p.200
. . . . . . g.285765
GAAAAAGTGGACAATTTAGGCCGAACTTACTATGTCAACCACAACAACCGGACCACTCAG c.660
E K V D N L G R T Y Y V N H N N R T T Q p.220
. . | 10 . . . . g.289657
TGGCACAGACCAAGCCTGAT | GGACGTGTCCTCGGAGTCGGACAATAACATCAGACAGATC c.720
W H R P S L M | D V S S E S D N N I R Q I p.240
. . . . . . g.289717
AACCAGGAGGCAGCACACCGGCGCTTCCGCTCCCGCAGGCACATCAGCGAAGACTTGGAG c.780
N Q E A A H R R F R S R R H I S E D L E p.260
. . . | 11 . . . g.291387
CCCGAGCCCTCGGAGGGCGGGGATGTCCCCGAG | CCTTGGGAGACCATTTCAGAGGAAGTG c.840
P E P S E G G D V P E | P W E T I S E E V p.280
. . . . . . g.291447
AATATCGCTGGAGACTCTCTCGGTCTGGCTCTGCCCCCACCACCGGCCTCCCCAGGATCT c.900
N I A G D S L G L A L P P P P A S P G S p.300
. . . . . . g.291507
CGGACCAGCCCTCAGGAGCTGTCAGAGGAACTAAGCAGAAGGCTTCAGATCACTCCAGAC c.960
R T S P Q E L S E E L S R R L Q I T P D p.320
. . . | 12 . . . g.294470
TCCAATGGGGAACAGTTCAGCTCTTTGATT | CAAAGAGAACCCTCCTCAAGGTTGAGGTCA c.1020
S N G E Q F S S L I | Q R E P S S R L R S p.340
. . . . | 13 . . g.296115
TGCAGTGTCACCGACGCAGTTGCAGAACAGGGCCATCTACCACCG | CCCAGTGCCCCAGCT c.1080
C S V T D A V A E Q G H L P P | P S A P A p.360
. . . . | 14 . . g.301675
GGGAGAGCGCGTTCATCAACTGTCACGGGTGGTGAGGAACCAACG | CCATCAGTGGCCTAT c.1140
G R A R S S T V T G G E E P T | P S V A Y p.380
. . . . . . g.301735
GTACATACCACGCCGGGTCTGCCTTCAGGCTGGGAAGAAAGAAAAGATGCTAAGGGGCGC c.1200
V H T T P G L P S G W E E R K D A K G R p.400
. . . . . | 15. g.302303
ACATACTATGTCAATCATAACAATCGAACCACAACTTGGACTCGACCTATCATGCAG | CTT c.1260
T Y Y V N H N N R T T T W T R P I M Q | L p.420
. . . . . . g.302363
GCAGAAGATGGTGCGTCCGGATCAGCCACAAACAGTAACAACCATCTAATCGAGCCTCAG c.1320
A E D G A S G S A T N S N N H L I E P Q p.440
. . . . . | 16. g.303531
ATCCGCCGGCCTCGTAGCCTCAGCTCGCCAACAGTAACTTTATCTGCCCCGCTGGAG | GGT c.1380
I R R P R S L S S P T V T L S A P L E | G p.460
. . . . . . g.303591
GCCAAGGACTCACCCGTACGTCGGGCTGTGAAAGACACCCTTTCCAACCCACAGTCCCCA c.1440
A K D S P V R R A V K D T L S N P Q S P p.480
. . . . . . g.303651
CAGCCATCACCTTACAACTCCCCCAAACCACAACACAAAGTCACACAGAGCTTCTTGCCA c.1500
Q P S P Y N S P K P Q H K V T Q S F L P p.500
. . . . . . g.303711
CCCGGCTGGGAAATGAGGATAGCGCCAAACGGCCGGCCCTTCTTCATTGATCATAACACA c.1560
P G W E M R I A P N G R P F F I D H N T p.520
. | 17 . . . . . g.310204
AAGACTACAACCTGG | GAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACA c.1620
K T T T W | E D P R L K F P V H M R S K T p.540
. . . | 18 . . . g.311640
TCTTTAAACCCCAATGACCTTGGCCCCCTTCCT | CCTGGCTGGGAAGAAAGAATTCACTTG c.1680
S L N P N D L G P L P | P G W E E R I H L p.560
. . | 19 . . . g.317848
GATGGCCGAACGTTTTATATTGATCATA | ATAGCAAAATTACTCAGTGGGAAGACCCAAGA c.1740
D G R T F Y I D H N | S K I T Q W E D P R p.580
. . | 20. . . . g.324923
CTGCAGAACCCAGCTATTACTGGTCCG | GCTGTCCCTTACTCCAGAGAATTTAAGCAGAAA c.1800
L Q N P A I T G P | A V P Y S R E F K Q K p.600
. . . | 21 . . . g.326648
TATGACTACTTCAGGAAGAAATTAAAGAAACCT | GCTGATATCCCCAATAGGTTTGAAATG c.1860
Y D Y F R K K L K K P | A D I P N R F E M p.620
. . . . . . g.326708
AAACTTCACAGAAATAACATATTTGAAGAGTCCTATCGGAGAATTATGTCCGTGAAAAGA c.1920
K L H R N N I F E E S Y R R I M S V K R p.640
. . . . . . g.326768
CCAGATGTCCTAAAAGCTAGACTGTGGATTGAGTTTGAATCAGAGAAAGGTCTTGACTAT c.1980
P D V L K A R L W I E F E S E K G L D Y p.660
. . . . . . g.326828
GGGGGTGTGGCCAGAGAATGGTTCTTCTTACTGTCCAAAGAGATGTTCAACCCCTACTAC c.2040
G G V A R E W F F L L S K E M F N P Y Y p.680
. . | 22 . . . . g.328405
GGCCTCTTTGAGTACTCTGCCAC | GGACAACTACACCCTTCAGATCAACCCTAATTCAGGC c.2100
G L F E Y S A T | D N Y T L Q I N P N S G p.700
. . . . . . g.328465
CTCTGTAATGAGGATCATTTGTCCTACTTCACTTTTATTGGAAGAGTTGCTGGTCTGGCC c.2160
L C N E D H L S Y F T F I G R V A G L A p.720
. . | 23 . . . . g.331054
GTATTTCATGGGAAGCTCTTAGATG | GTTTCTTCATTAGACCATTTTACAAGATGATGTTG c.2220
V F H G K L L D G | F F I R P F Y K M M L p.740
. . . | 24 . . . g.333820
GGAAAGCAGATAACCCTGAATGACATGGAATCTGTG | GATAGTGAATATTACAACTCTTTG c.2280
G K Q I T L N D M E S V | D S E Y Y N S L p.760
. . . . . . g.333880
AAATGGATCCTGGAGAATGACCCTACTGAGCTGGACCTCATGTTCTGCATAGACGAAGAA c.2340
K W I L E N D P T E L D L M F C I D E E p.780
. | 25 . . . . . g.343916
AACTTTGGACAG | ACATATCAAGTGGATTTGAAGCCCAATGGGTCAGAAATAATGGTCACA c.2400
N F G Q | T Y Q V D L K P N G S E I M V T p.800
. . | 26 . . . . g.346182
AATGAAAACAAAAGGGAATATATCGA | CTTAGTCATCCAGTGGAGATTTGTGAACAGGGTC c.2460
N E N K R E Y I D | L V I Q W R F V N R V p.820
. . | 27. . . . g.348094
CAGAAGCAGATGAACGCCTTCTTGGAG | GGATTCACAGAACTACTTCCTATTGATTTGATT c.2520
Q K Q M N A F L E | G F T E L L P I D L I p.840
. . | 28. . . . g.349740
AAAATTTTTGATGAAAATGAGCTGGAG | TTGCTCATGTGCGGCCTCGGTGATGTGGATGTG c.2580
K I F D E N E L E | L L M C G L G D V D V p.860
. . . . . . g.349800
AATGACTGGAGACAGCATTCTATTTACAAGAACGGCTACTGCCCAAACCACCCCGTCATT c.2640
N D W R Q H S I Y K N G Y C P N H P V I p.880
. | 29 . . . . . g.351313
CAGTGGTTCTGGAAG | GCTGTGCTACTCATGGACGCCGAAAAGCGTATCCGGTTACTGCAG c.2700
Q W F W K | A V L L M D A E K R I R L L Q p.900
. . . . . | 30 . g.352117
TTTGTCACAGGGACATCGCGAGTACCTATGAATGGATTTGCCGAACTTTATG | GTTCCAAT c.2760
F V T G T S R V P M N G F A E L Y G | S N p.920
. . . . . . g.352177
GGTCCTCAGCTGTTTACAATAGAGCAATGGGGCAGTCCTGAGAAACTGCCCAGAGCTCAC c.2820
G P Q L F T I E Q W G S P E K L P R A H p.940
| 31 . . . . . . g.356844
ACATG | CTTTAATCGCCTTGACTTACCTCCATATGAAACCTTTGAAGATTTACGAGAGAAA c.2880
T C | F N R L D L P P Y E T F E D L R E K p.960
. . . . g.356892
CTTCTCATGGCCGTGGAAAATGCTCAAGGATTTGAAGGGGTGGATTAA c.2928
L L M A V E N A Q G F E G V D X p.975
. . . . . . g.356952
gcaccctgtgcctcgggggtggttgttcttcaagcaagttctgcttgcacttttgcattt c.*60
. . . . . . g.357012
gcctaacagacttttgcagaggcgatggcagagagcagctgcaggcatggtccctggagc c.*120
. . . . . . g.357072
cgagccttcaccacgcactcgtccaagttcggatgcgggaacctggtcccagcttgagtt c.*180
. . . . . . g.357132
cctgcctttcccaccacaaattatcaactggttgatgtgtacactaattacatttcagga c.*240
. . . . . . g.357192
ggacttaatgctatttatgttgtgcctctgcaggcaaagcccttaataaatattttacat c.*300
. . . . . . g.357252
cctttctaatgacaatgaatggaattaatcactcaacaggtatagtattacgactcatgt c.*360
. . . . . . g.357312
ttactttttaaaatgatttagaccgattttcagattttatttcgttatgattaaagatgt c.*420
. . . . . . g.357372
ctcatgtacttggaaaagtgagcattttttttttttttgtatttcactttcataccaggc c.*480
. . . . . . g.357432
ttaatgtcaatgacatttttatttttgaagtactctgacacctccaccctctactttatt c.*540
. . . . . . g.357492
agaattggaaggcaaatttttgtccaaaaacctacagacaagtactttgagagaatttcc c.*600
. . . . . . g.357552
aatataatattagacataatgataattttttccatactcagaatgaaaaactggatatta c.*660
. . . . . . g.357612
cgtttttgttttggggtttttttgtacaaatttagctaatagctacaggctgagagaatt c.*720
. . . . . . g.357672
gtaacatagcatgacaaattttgtgttgacttgaaaggaatcacaccattattccttaga c.*780
. . . . . . g.357732
agtaattacatgtgttctaacacatttgagacagggttggactcccatttctcatccgag c.*840
. . . . . . g.357792
aaattacttaacccttcctggcgctgtacagtcatcttttattctatttcctctttgctg c.*900
. . . . . . g.357852
tttgtagtagagacattttgaatgaaacttggcactgcttgattcaaaactgtggaaacc c.*960
. . . . . . g.357912
agatctgtttagtctcctgtttgtatgcgtttgctaatggtagctaaataaccagttttt c.*1020
. . . . . . g.357972
gttgtaaatgcaccaattctgaaggcactttatgtactacatggaggtcatatctggttt c.*1080
. . . . . . g.358032
tgtttttatttttttatcatgaacattaaatgtgatgatgatttcttttccctgcacaca c.*1140
. . . . . . g.358092
tctttccggtgcaatatctatcaattgtgaatctggctgctggtgtataaaaacctggat c.*1200
. . . . . . g.358152
gtaaagctgagcctacagacctgtcctcaccaactgttttgtgatttctactcaactaca c.*1260
. . . . . . g.358212
aagatttatttaatgtactcttaatctaactgagttttgttaccaatgacctgttgcatg c.*1320
. . . . . . g.358272
cttcaataccgtgtactgcctgagttgtgcctcttgtgtgctagattaaaagtgagacag c.*1380
. . . . . . g.358332
agacttgacttgatcctctgagctcaagctattgagctggtagtggcagaggactgaggg c.*1440
. . . . . . g.358392
tacctgcacagtttgattcttttccacgtgtaagtctccattgcagaattgtcgtgcttt c.*1500
. . . . . . g.358452
gagaaaacacctgaggcagtgtgggagttgaacgaccctgctgtcctttttaacctgtgt c.*1560
. . . . . . g.358512
tgtcctagaccctgtcggggcagtcaggggacactagagatttgatctcatgcgagtcat c.*1620
. . . . . . g.358572
caataggacaaaaaagttgtggtttggggaggtctgtttgttacataaaaaggacctttc c.*1680
. . . . . . g.358632
ggtgtaagaaattgccgtttttaccctgccctggctggcatgtgagaagccatggaaggt c.*1740
. . . . . . g.358692
tgtggttgtaaatgagttgtctaaaggggtgcagaggcctgaggtttctaaaagaaggta c.*1800
. . . . . . g.358752
gatttctacagagctgagtgttggttcctttttcttattggttgaaaattacctggtagt c.*1860
. . . . . . g.358812
gatcagaaaacttagatgctatgtaactaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa c.*1920
. . . . . . g.358872
aaaaattcccgctcatgagttttgactattggtgagatgttttccgctacagttaacatg c.*1980
. . . . . . g.358932
acaaatgtctcagtggcaaaaatcccctttttgtaagcccccatagtctagaggcagttt c.*2040
. . . . . . g.358992
tctttttaagaatcatgccagagcctgagtcgagcagtatgctttcttggtttttgagag c.*2100
. . . . . . g.359052
taattgtgtaattgtagagggagaaatccaattctaacctaagaactgggattcttctgt c.*2160
. . . . . . g.359112
catcttgtaaaccgtatattgaaaaaaacagaatgtcactaaatgcatattaagtcaagt c.*2220
. . . . . . g.359172
attggaaagtataaaagaaaaatcattctgacaatttctaagccagaagcaaacaagaat c.*2280
. . . . . . g.359232
tactgaaatctaccccatgaatacttggaaggcagtaattgtgagtgacacctcagttca c.*2340
. . . . . . g.359292
tcaaccccttaataatatcagcttaattttaatgacaactaaatatgctgaagtgaggat c.*2400
. . . . . . g.359352
ttagtattttttaaaaaagcaaaacaaggttcagtagtcctcagcaattctccaagtttc c.*2460
. . . . . . g.359412
tctctttgcctaaaatggtcatagatcttgatttctctgaatcgtgatgaccacacccag c.*2520
. . . . . . g.359472
tcatcttcacagcataattgcaggtggcagtaaagagagtgtgctgggtaaggagcagtt c.*2580
. . . . . . g.359532
gctgggtcattccttgggccccgacctgcccggggagtagccctgggggagagagggcag c.*2640
. . . . . . g.359592
tgttgcctatcccagaggtcccagcagtcacactgctctgcaggccgggctctctttata c.*2700
. . . . . . g.359652
gccagagaaatcaccttaatgcagtctctttagttgtctgctgaagctgtagttattatg c.*2760
. . . . . . g.359712
ggccacttacatgaggctgagaagtacgtgccggagctcacacactgcctgttgcggttc c.*2820
. . . . . . g.359772
tcttaacatcagttatcacagctgcctgtgggtcccgggtatttccattcctgccccttg c.*2880
. . . . . . g.359832
ttggcccgaggaaggatgtggaaagagcacctggtgggatgaaggtccaacagcctgtgc c.*2940
. . . . . . g.359892
ctctccactgctggccctggagccggcagcagtgaggcattcattgtctgtgttgcggtg c.*3000
. . . . . . g.359952
tattcccagcttcagtgctcttttcctttttgcctgaaatgtttatgcttctctgcagcc c.*3060
. . . . . . g.360012
agtcctctaacaaatctcaagaacaaaggtaagacacttggtttttgtttccaggaccct c.*3120
. . . . . . g.360072
tcagaaggtgacatcagatattccctaaattcagacaatgagggatacagagcgacttgg c.*3180
. . . . . . g.360132
catgtattatttctcccatgtaaggacaaagggacagattattattgttatttctgagac c.*3240
. . . . . . g.360192
agagtcttgctctgtagctcaggctggagtgcagtggctcaatctcagctcaccacaacc c.*3300
. . . . . . g.360252
tctgcctcctggcttcaagcgattcttctgcctcagcctccccgaatagttgggattaca c.*3360
. . . . . . g.360312
ggcacccaccaccacgcctggctaatttttgtatttttagtagagatggtttcaccatgc c.*3420
. . . . . . g.360372
tggccaggctggtcttgaactcctgacctcaggtgatcctcccgcctcagccttccaaag c.*3480
. . . . . . g.360432
tgctgggattacaagcatgagccaccgcacccggcctcacagtgacagattctgagaaac c.*3540
. . . . . . g.360492
agcatgcaaaacatttgaaccattttctacatctcccattgttgcatagagagtgtgcac c.*3600
. . . . . . g.360552
cgctgctatcttgccagatccacactggtcctcccgaaagccaggttcatacacagcaac c.*3660
. . . . . . g.360612
tttttaattattctaacagttacccattaacagtcgactcctgtatttctgagagtcttg c.*3720
. . . . . . g.360672
tactcacctctgaaatttaaaaacgtataaagagagcctgggttaatcagttctgcagcc c.*3780
. . . . . . g.360732
cctacgtgacactgtgctagttctccttcttctgtctcctccttaccctggccctgcacc c.*3840
. . . . . . g.360792
cctgtacttaagagggagaggtgggaggtgctgtctggtatcatttgctgcctcgccagt c.*3900
. . . . . . g.360852
agagggtgccgctgtgcagggtaactgcccgcctgctcccttcctgacctcccctgaccc c.*3960
. . . . . . g.360912
cgaagatcactacctctgtcattcaggcattggggtacatcctgataagtcgtgtcagaa c.*4020
. . . . . . g.360972
ctgccaatttcaggactgagatgtgtttttaaaaaacaaatccttataaactccactttg c.*4080
. . . . . . g.361032
tactttagattttaaaactggggaaaaatgtgatattctttggaccacttttttaattta c.*4140
. . . . . . g.361092
tataagccttaatgaacagtgtctatacatttgcatacacacacccccaccccagagtgt c.*4200
. . . . . . g.361152
tctcagtatgtcagagaaagtgccacagcattaggacgggagcttggagaacgttttcta c.*4260
. . . . . . g.361212
gaaaagggttagcttcctgttggcatgaaattttccaagcaaacctcattaaacatctgt c.*4320
. . . . . . g.361272
tgtttgttaaagatgttccactgaaagcaacgcatgtttcaaaggcacgtctttccgttc c.*4380
. . . . . . g.361332
gttggttttctgtgtgtaaggagtagcattgctgttggcgcctaacctcgcgtgcactgc c.*4440
. . . . . . g.361392
attctcaaccccgtaccagtgcatcatcagaagccttcctcgtgaccataactctgtgtc c.*4500
. . . . . . g.361452
tgcagatatgtgttcccgtgtaagccagttttccccttttactcagactgatttcaccta c.*4560
. . . . . . g.361512
gattgtcacggtttccttcatgttaactttgcgtgactttgttcttcctttactactctg c.*4620
. . . . . . g.361572
tatgtaatatatatacatatatacgtacatatgctgtccaaatatatttgtatatatttg c.*4680
. . . . . . g.361632
tatagcatttttacacctttattgagtaatctggtttcgaaaggaggtgagagtttagtc c.*4740
. . . . . . g.361692
ccttctgcagttttctccaagctgtgtcctgtgaatttcaacccttggagcctaagaaaa c.*4800
. . . . . . g.361752
ccctaggaagatgatgttaatttgctgtcatttcctaattcaggatctatcatcaaatga c.*4860
. . . . . . g.361812
aacatgaaaaaaacagtgacttttaaggtgaaaagagtttcaagcattccaaataaatta c.*4920
. . . . . . g.361872
tcaatgtttcataactttttattataaacccacctcctaataggaagccaagtactattt c.*4980
. . . . . . g.361932
gatacagtggtaaaaaccaaactaccttgaatttttttaaggcaacttatgaataatgct c.*5040
. . . . . . g.361992
cattttcacagtcagaatagctttaaaatatggttgaatttgatacacacaggaagtttt c.*5100
. . . . . . g.362052
cttgaagaacaatcctttcgcttttcttttttcttgagagatctaaagagaaactgtaga c.*5160
. . . . . . g.362112
ttgttttcctgacagcaaaagactaatgtgacaaaatgaagtcattgtaaagaagcgatg c.*5220
. . . . . g.362163
caacttgtcaaatatttaataaagaattatggaagctggaacattttctac c.*5271
(downstream sequence)
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