(used for variant description)
(last modified June 28, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_025191.3 in the EDEM3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering EDEM3 transcript NM_025191.3.
(upstream sequence)
. . g.5021
gttggggaggcggtttcctag c.-241
. . . . . . g.5081
actacgacaccggaaagctgggggaggcgctccgggatactgagggcggagggcggtggc c.-181
. . . . . . g.5141
agcgctggcgctggggaccggcttggtggcttcgggaaacagtttggcgccggcggccgt c.-121
. . . . . . g.5201
ccgtgttactccgcatcccgccccgtctcggcacggctagcagccccctggccaccagcg c.-61
. . . . . . g.5261
tccagcaatgtgtctcaccggccgggcgtagcagctgcgcgtgcgcggaaccgcggggcc c.-1
. . . . . . g.5321
ATGAGCGAAGCCGGCGGCCGGGGCTGTGGGTCCCCGGTTCCCCAGCGAGCGCGATGGAGA c.60
M S E A G G R G C G S P V P Q R A R W R p.20
. . . . . . g.5381
CTAGTGGCGGCGACGGCCGCGTTCTGCCTGGTGTCGGCCACCTCCGTGTGGACGGCGGGG c.120
L V A A T A A F C L V S A T S V W T A G p.40
. . . | 02 . . g.10337
GCCGAGCCCATGAGTAGGGAGGAGAAACAGAAGCTTGG | GAATCAAGTACTGGAAATGTTT c.180
A E P M S R E E K Q K L G | N Q V L E M F p.60
. . | 03 . . . . g.22232
GATCATGCTTATGGTAACTATATG | GAACATGCTTACCCTGCTGATGAACTCATGCCTTTA c.240
D H A Y G N Y M | E H A Y P A D E L M P L p.80
. . . . . . g.22292
ACCTGTAGAGGTCGAGTTAGAGGCCAAGAGCCAAGTCGCGGTGACGTTGATGATGCCTTG c.300
T C R G R V R G Q E P S R G D V D D A L p.100
| 04 . . . . | 05 . . g.25279
GGAAA | ATTTTCTCTGACACTGATTGATTCTTTGGACACTCTTGTG | GTTTTAAATAAAACT c.360
G K | F S L T L I D S L D T L V | V L N K T p.120
. . . . . . g.25339
AAAGAATTTGAAGATGCAGTGAGAAAAGTTTTAAGAGATGTTAATTTAGATAACGATGTA c.420
K E F E D A V R K V L R D V N L D N D V p.140
. . . | 06 . . g.26939
GTCGTATCAGTCTTTGAAACAAACATCAGAGTTCTTGG | GGGTCTTTTGGGTGGGCACTCC c.480
V V S V F E T N I R V L G | G L L G G H S p.160
. . . . . . g.26999
CTGGCAATCATGCTGAAAGAAAAAGGTGAATATATGCAGTGGTACAATGATGAACTTCTC c.540
L A I M L K E K G E Y M Q W Y N D E L L p.180
. . . . . . g.27059
CAAATGGCAAAGCAGTTAGGTTACAAACTTTTACCGGCTTTCAACACTACCAGTGGCCTT c.600
Q M A K Q L G Y K L L P A F N T T S G L p.200
. | 07 . . . . . g.33566
CCTTATCCAAGA | ATTAATTTAAAGTTTGGCATCAGAAAACCAGAAGCTCGGACAGGAACT c.660
P Y P R | I N L K F G I R K P E A R T G T p.220
. . . . . . g.33626
GAGACAGATACCTGTACAGCTTGTGCAGGTACCTTGATCCTTGAATTTGCTGCTTTAAGT c.720
E T D T C T A C A G T L I L E F A A L S p.240
. . | 08. . . . g.36084
CGATTCACAGGAGCAACAATATTTGAG | GAATATGCCAGAAAAGCTCTTGATTTTCTCTGG c.780
R F T G A T I F E | E Y A R K A L D F L W p.260
. . . . . . g.36144
GAAAAAAGACAGCGAAGTAGTAATTTAGTGGGCGTGACTATAAATATTCATACTGGAGAT c.840
E K R Q R S S N L V G V T I N I H T G D p.280
. | 09 . . . . . g.38568
TGGGTACGAAAAG | ATAGTGGAGTTGGAGCAGGGATTGATTCATATTATGAATATCTGTTG c.900
W V R K D | S G V G A G I D S Y Y E Y L L p.300
. . . . . | 10 . g.40348
AAAGCCTATGTCTTGCTTGGAGATGACAGTTTTCTGGAAAGATTTAACACA | CACTATGAT c.960
K A Y V L L G D D S F L E R F N T | H Y D p.320
. . . . . . g.40408
GCCATAATGAGGTATATTAGCCAGCCACCTCTTCTACTTGATGTGCATATCCACAAACCA c.1020
A I M R Y I S Q P P L L L D V H I H K P p.340
. . . . . | 11. g.40665
ATGCTGAATGCTCGGACTTGGATGGATGCTTTGCTTGCCTTCTTCCCAGGCTTGCAG | GTG c.1080
M L N A R T W M D A L L A F F P G L Q | V p.360
. . . . . . g.40725
TTAAAGGGGGATATTAGACCTGCTATTGAAACTCATGAAATGTTATATCAGGTGATTAAA c.1140
L K G D I R P A I E T H E M L Y Q V I K p.380
. . | 12 . . . . g.42323
AAACACAATTTTCTACCAGAG | GCATTTACCACAGATTTCAGAGTACACTGGGCTCAACAT c.1200
K H N F L P E | A F T T D F R V H W A Q H p.400
. . . . | 13 . . g.42910
CCTTTAAGGCCAGAATTTGCAGAAAGTACCTACTTCTTATATAAA | GCTACAGGAGATCCT c.1260
P L R P E F A E S T Y F L Y K | A T G D P p.420
. . . . . . g.42970
TACTACCTTGAAGTAGGGAAGACACTTATTGAAAATTTAAATAAATATGCTAGAGTGCCT c.1320
Y Y L E V G K T L I E N L N K Y A R V P p.440
. . . . . | 14 . g.47319
TGCGGATTTGCTGCCATGAAGGATGTTCGTACTGGAAGTCATGAGGACAG | AATGGATTCT c.1380
C G F A A M K D V R T G S H E D R | M D S p.460
. . . . . . g.47379
TTCTTCTTGGCTGAAATGTTTAAATATCTTTACCTGTTATTTGCTGATAAAGAAGACATT c.1440
F F L A E M F K Y L Y L L F A D K E D I p.480
. . . . . . g.47439
ATTTTTGACATAGAAGATTACATCTTTACAACAGAAGCTCATCTGTTACCTCTTTGGCTC c.1500
I F D I E D Y I F T T E A H L L P L W L p.500
. . . | 15 . . . g.48054
TCTACTACAAATCAAAGCATCTCTAAAAAGAACACA | ACCTCGGAATATACAGAACTGGAT c.1560
S T T N Q S I S K K N T | T S E Y T E L D p.520
. . . . . . g.48114
GACAGTAACTTCGATTGGACTTGTCCAAATACTCAGATCCTCTTTCCTAATGACCCATTG c.1620
D S N F D W T C P N T Q I L F P N D P L p.540
. . . . . . g.48174
TATGCTCAAAGTATTCGTGAGCCCTTGAAAAATGTGGTGGATAAGAGCTGTCCTAGAGGC c.1680
Y A Q S I R E P L K N V V D K S C P R G p.560
. | 16 . . . . . g.49409
ATCATCAGAGT | AGAGGAGAGTTTCAGGAGTGGAGCTAAACCCCCTCTGAGAGCCAGAGAT c.1740
I I R V | E E S F R S G A K P P L R A R D p.580
. . . . . . g.49469
TTCATGGCCACTAACCCTGAGCATTTAGAAATCCTGAAGAAGATGGGGGTGAGTTTGATT c.1800
F M A T N P E H L E I L K K M G V S L I p.600
. . . . | 17 . . g.51578
CACCTCAAAGATGGGAGAGTCCAGTTGGTCCAACATGCAATCCAA | GCTGCTAGTTCAATC c.1860
H L K D G R V Q L V Q H A I Q | A A S S I p.620
. . . . . . g.51638
GACGCTGAAGATGGGTTGAGGTTCATGCAGGAGATGATTGAATTGTCAAGTCAGCAACAA c.1920
D A E D G L R F M Q E M I E L S S Q Q Q p.640
. . . . . . g.51698
AAAGAACAGCAGCTGCCTCCACGAGCTGTACAAATTGTTTCCCACCCATTTTTTGGCAGG c.1980
K E Q Q L P P R A V Q I V S H P F F G R p.660
. . . . . | 18. g.53102
GTAGTATTGACTGCTGGACCAGCTCAGTTTGGGCTGGATCTGTCTAAACATAAAGAG | ACA c.2040
V V L T A G P A Q F G L D L S K H K E | T p.680
. . . . . . g.53162
AGAGGATTTGTTGCAAGCAGTAAACCATCCAATGGTTGTTCAGAGCTTACTAACCCAGAG c.2100
R G F V A S S K P S N G C S E L T N P E p.700
. . . . . . g.53222
GCAGTGATGGGAAAAATCGCACTGATACAAAGAGGACAGTGCATGTTTGCAGAAAAGGCA c.2160
A V M G K I A L I Q R G Q C M F A E K A p.720
. . . . | 19 . . g.56928
CGCAACATCCAGAATGCTGGAGCCATTGGTGGCATTGTTATTG | ATGACAATGAGGGGAGC c.2220
R N I Q N A G A I G G I V I D | D N E G S p.740
. . . . . . g.56988
AGCAGTGATACTGCCCCTCTGTTCCAGATGGCAGGTGATGGAAAGGATACAGATGACATC c.2280
S S D T A P L F Q M A G D G K D T D D I p.760
. . . . . . g.57048
AAGATCCCCATGCTGTTCTTATTCAGCAAAGAAGGAAGTATCATACTGGATGCCATCCGG c.2340
K I P M L F L F S K E G S I I L D A I R p.780
. . . . | 20 . g.65446
GAATATGAGGAGGTAGAAGTGCTCCTCTCTGATAAAGCAAAAGATCGAG | ATCCTGAAATG c.2400
E Y E E V E V L L S D K A K D R D | P E M p.800
. . . . . . g.65506
GAAAATGAAGAACAACCATCCTCTGAAAATGATTCTCAGAATCAGAGTGGTGAACAGATT c.2460
E N E E Q P S S E N D S Q N Q S G E Q I p.820
. . . . . . g.65566
TCATCAAGTTCTCAGGAGGTTGATTTGGTTGATCAAGAGTCTTCTGAGGAAAATTCTCTA c.2520
S S S S Q E V D L V D Q E S S E E N S L p.840
. . . . . . g.65626
AATTCTCACCCAGAATCATTATCTCTAGCAGATATGGACAATGCTGCAAGCATTTCCCCT c.2580
N S H P E S L S L A D M D N A A S I S P p.860
. . . . . . g.65686
TCTGAACAGACTTCTAATCCCACAGAAAACCATGAGACTACAAATCTTAATGGTGAATGT c.2640
S E Q T S N P T E N H E T T N L N G E C p.880
. . . . . . g.65746
ACAGATTTAGATAACCAGCTTCAAGAACAATCAGAAACTGAGGAAGATTCCAATCCTAAT c.2700
T D L D N Q L Q E Q S E T E E D S N P N p.900
. . . . . . g.65806
GTTAGCTGGGGTAAAAAGGTCCAGCCTATAGACTCCATATTAGCAGACTGGAATGAAGAT c.2760
V S W G K K V Q P I D S I L A D W N E D p.920
. . . g.65845
ATAGAAGCATTTGAAATGATGGAGAAGGATGAGCTATGA c.2799
I E A F E M M E K D E L X p.932
. . . . . . g.65905
cttgctaaacaatctgttggtaggtatttaaaaagaaaaggtaaactgtgtgtggttaat c.*60
. . . . . . g.65965
agacatcctaatactaagcaggctttctaatgggaggctttaagtatggtgatgaacaac c.*120
. . . . . . g.66025
cacgttctgactggcgtagttatcgtaggaatctggagcatgctgtgttagaattgacct c.*180
. . . . . . g.66085
tgtttaaaactgtcccatcaaaaatggaaatccacagttcccccttcaaatgcagcactg c.*240
. . . . . . g.66145
caccaccctgcaacacctcaggccagggaaagattactgagcattcctgcgaaccagatt c.*300
. . . . . . g.66205
tctgttgtctctggatagacaagaaacaaaattcatttagtagtggagtggggaatagga c.*360
. . . . . . g.66265
gtttggatagccttctaattaaaggaagctcgcctttcttggttttgggggttagaggct c.*420
. . . . . . g.66325
cttttgggaagatgcatccgagtattgtggcattctgattatgctgccttcacaaaacac c.*480
. . . . . . g.66385
tctaagtgacctaagtggttatgaagcaaatgcatttatggtgaaaacagtctttgctca c.*540
. . . . . . g.66445
ttgctttctcttgtttcatttagtgacaaatgatcaagatgacttgattttttttccttc c.*600
. . . . . . g.66505
ttaacaatgtcttttttatttaaaccaaaggtgaagccagtgtactttctcagtgagttc c.*660
. . . . . . g.66565
tctgcataaagactaatcagtgggaccaggtaaaaaggtcatataatacattgtggagat c.*720
. . . . . . g.66625
tgcttacttaatacttctgaaaaatggagtaagggagaaactgtaatgttgcaatatgaa c.*780
. . . . . . g.66685
cctcccattgggccttccatagggaaagctgtgactactctgaaatggaacctagcatta c.*840
. . . . . . g.66745
tatccttgtagggtagattataaatcatttccagttcatttctcttagaggtgattacct c.*900
. . . . . . g.66805
ctagccatcagccttactccatcccatgtttggtatgcaatttgagccacaaggctcgta c.*960
. . . . . . g.66865
tcgccaacagctatatacattttgttccatttttctgtcttacagagccatgatagaact c.*1020
. . . . . . g.66925
gtggttagtgagttaaaattcctggagtaactactgtttttctcctttgaaacttaggtt c.*1080
. . . . . . g.66985
tctaaagttgcacctaaggaatctgtcacattttctgttgaatcatggtttttgtttttg c.*1140
. . . . . . g.67045
tttttaacagatattccttctgatacggacttgaaaattagtgtatggtgacctgtgttt c.*1200
. . . . . . g.67105
aaaaaaaaaagtacaatacaactacatatagctatatagcttaatgagacttccaccccc c.*1260
. . . . . . g.67165
cccctttttttttttggtttgttgttgttgtagtagtctggtgctggccacatttaagtc c.*1320
. . . . . . g.67225
ttaaaaatttttaaattttgttgttgatgtttgtagacagccctgttgttgaaatcatgg c.*1380
. . . . . . g.67285
ctttattcattttatttattttttaaacttgcctgaatttgttctaaaggaatatttaag c.*1440
. . . . . . g.67345
agacataattttcttctctttaccataacattacacaaaactttttcctaaaacacggtt c.*1500
. . . . . . g.67405
gtgaggtactgatgaggtgtaagtggagctgttaaaaacagcagtgctgtattgcagtta c.*1560
. . . . . . g.67465
tgtatattcgtgtacagtatgtttagatcccaggtaaacatattcttttctgagaggata c.*1620
. . . . . . g.67525
aatacctgcattcagatattccaggtaaatataattgagtcagggagtagtaaatctgat c.*1680
. . . . . . g.67585
ggagaattcactttggggaggggaaaaagaatagtatgcaagacccttattggcttttaa c.*1740
. . . . . . g.67645
ttatacctgaaaccaaaatggatatttttagtctctctgcatgtgagatttggtgtaaca c.*1800
. . . . . . g.67705
agatagaactataatatatacagtatatggaaggatagatatagtgctttgttcatttta c.*1860
. . . . . . g.67765
attgcaaagctgccaaaatagttgaagcttaattacttgacttgccttgatttataggac c.*1920
. . . . . . g.67825
tggggcttggagaaaatgagcagatgttcctctaagacatcgattacagaagccttatat c.*1980
. . . . . . g.67885
acatggatttgattttgtatttgtagctgaaagtcactgttgtctaaaactaacttttct c.*2040
. . . . . . g.67945
aagttatcaaaacaacctaatttcttttccaacaaggagaacttaatggcatgaaggatt c.*2100
. . . . . . g.68005
gtgtgacacattggaaaagccagcttactgccactctcttcctttggccattagagggag c.*2160
. . . . . . g.68065
gtgttgcctttcattgacgcttagaagcaaattgttcacttgttaagaaaagtaaatcct c.*2220
. . . . . . g.68125
taaaaaaagaaaaggaaaaaatttaaccaatttttcttaatacccagaaggaattatact c.*2280
. . . . . . g.68185
caatatttccctagttaagaaaagaggagataatgttcgtctaaaaaactccaacgttgt c.*2340
. . . . . . g.68245
aattacaactctacattcatttacttacttgacatactgccacaaagtagtttttgagtt c.*2400
. . . . . . g.68305
cattaaaaattccaaaggcattagttgttttttttttttttagtgttttgttttttagtt c.*2460
. . . . . . g.68365
aacttttatagacattttagtaacttgctaaagattcaggggattctatgaaaccccgaa c.*2520
. . . . . . g.68425
tttagaaacatctggtctacctcagttaaatgttgactgcttagaaatatagctgaagtg c.*2580
. . . . . . g.68485
atcaccacagccataaaattgtttaagaaagatttatataatgtttacaaatctggaatc c.*2640
. . . . . . g.68545
aaggattttagctgaaatcctttaagagatattagagcaagtatttaattcaggtatttt c.*2700
. . . . . . g.68605
caagttttaaaacttaacctgtttacctactaaaaataaaatagctagtttttttctgca c.*2760
. . . . . . g.68665
tataaaagttcattgaaatgatatgcccttatttgcaatacttttcccataaagttttaa c.*2820
. . . . . . g.68725
gtgtgaaagaattgtaatttactagatatgtttggtatgggatattttgttaggcaagtt c.*2880
. . . . . . g.68785
ttcttttttcttcttaaattgcaataggcttccaaaaagagtataattgtttcagaacaa c.*2940
. . . . . . g.68845
attaactcttggcattatacgtctccctttttctttacagtattagtaaaaagaaaaatt c.*3000
. . . . . . g.68905
gtacactttctgattttaacttcactaatgtaattactctctcaagaagcttttaaaatt c.*3060
. . . . . . g.68965
taaattaccatcacacaaccttttttatagtaaagccaacatttgttctctcaccaaacc c.*3120
. . . . . . g.69025
ccatgccaaattcatcatgaagaaagctcagcataagtaattcaaatactgcttataatt c.*3180
. . . . . . g.69085
ttagaggggggtagaatttagtaaatattccagccggtcgttttatgcacaaggcttcag c.*3240
. . . . . . g.69145
tcagaacatagaaaaaaaaaacattctgtgaatgaaatattgtatgttcagattttataa c.*3300
. . . . . . g.69205
aagacatttttaaaagcccaatttacagccgtatattttcttatgatgtaatttatgaaa c.*3360
. . . . . . g.69265
aagatgtctgtactaacaggtgctgtaacactactgttgttggattttattgtttggtga c.*3420
. . . . . . g.69325
taaatgtatacaatatttctaagggaaactatgtactgtgatgtaaaagtctgggcaaaa c.*3480
. . . . . . g.69385
tgtatataatcctgtatataattatgtatttgattataattactgattgtaaagatttaa c.*3540
. . . g.69417
taaaatatgtaaatattccagtttagttttaa c.*3572
(downstream sequence)
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