(used for variant description)
(last modified October 3, 2014)
This file was created to facilitate the description of sequence variants in the ERCC4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011442.1 (identical to LRG_463), covering ERCC4 transcript NM_005236.2.
(upstream sequence)
g.5009
agagcttcc c.-1
. . . . . . g.5069
ATGGAGTCAGGGCAGCCGGCTCGACGGATTGCCATGGCGCCGCTGCTGGAGTACGAGCGA c.60
M E S G Q P A R R I A M A P L L E Y E R p.20
. . . . . . g.5129
CAGCTGGTGCTGGAACTGCTCGACACTGACGGGCTAGTAGTGTGCGCCCGCGGGCTCGGC c.120
Q L V L E L L D T D G L V V C A R G L G p.40
. . . . . . g.5189
GCGGACCGGCTCCTCTACCACTTTCTCCAGCTGCACTGCCACCCAGCCTGCCTGGTGCTG c.180
A D R L L Y H F L Q L H C H P A C L V L p.60
. . | 02. . . . g.6907
GTGCTCAACACGCAGCCGGCCGAGGAG | GAGTATTTTATCAATCAGCTGAAGATAGAAGGA c.240
V L N T Q P A E E | E Y F I N Q L K I E G p.80
. . . . . . g.6967
GTTGAACACCTCCCTCGCCGTGTAACAAATGAAATCACAAGCAACAGTCGCTATGAAGTT c.300
V E H L P R R V T N E I T S N S R Y E V p.100
. . . . . . g.7027
TACACACAAGGTGGTGTTATATTTGCGACAAGTAGGATACTTGTGGTTGACTTCTTGACT c.360
Y T Q G G V I F A T S R I L V V D F L T p.120
. . | 03 . . . g.11436
GATAGAATACCTTCAGATTTAATTACTG | GCATCTTGGTGTATAGAGCCCACAGAATAATC c.420
D R I P S D L I T G | I L V Y R A H R I I p.140
. . . . . . g.11496
GAGTCTTGTCAAGAAGCATTCATCTTGCGCCTCTTTCGCCAGAAAAACAAACGTGGTTTT c.480
E S C Q E A F I L R L F R Q K N K R G F p.160
. . . . . . g.11556
ATTAAAGCTTTCACAGACAATGCTGTTGCCTTTGATACTGGTTTTTGTCATGTGGAAAGA c.540
I K A F T D N A V A F D T G F C H V E R p.180
. . . . | 04 . . g.12887
GTGATGAGAAATCTTTTTGTGAGGAAACTGTATCTGTGGCCAAG | GTTCCATGTAGCAGTA c.600
V M R N L F V R K L Y L W P R | F H V A V p.200
. . . . . . g.12947
AACTCATTTTTAGAACAGCACAAACCTGAAGTTGTAGAAATCCATGTTTCTATGACACCT c.660
N S F L E Q H K P E V V E I H V S M T P p.220
. . . . . . g.13007
ACCATGCTTGCTATACAGACTGCTATACTGGACATTTTAAATGCATGTCTAAAGGAACTA c.720
T M L A I Q T A I L D I L N A C L K E L p.240
. . . . . . g.13067
AAATGCCATAACCCATCGCTTGAAGTGGAAGATTTATCTTTAGAAAATGCTATTGGAAAA c.780
K C H N P S L E V E D L S L E N A I G K p.260
. | 05 . . . . . g.15601
CCTTTTGACAAG | ACAATCCGCCATTATCTGGATCCTTTGTGGCACCAGCTTGGAGCCAAG c.840
P F D K | T I R H Y L D P L W H Q L G A K p.280
. . . . . . g.15661
ACTAAATCCTTAGTTCAGGATTTGAAGATATTACGAACTTTGCTGCAGTATCTCTCTCAG c.900
T K S L V Q D L K I L R T L L Q Y L S Q p.300
. . . . . . g.15721
TATGATTGTGTCACATTTCTTAATCTTCTGGAATCTCTGAGAGCAACGGAAAAAGCTTTT c.960
Y D C V T F L N L L E S L R A T E K A F p.320
. | 06 . . . . . g.17047
GGTCAGAATTCAG | GTTGGCTGTTTCTTGACTCCAGCACCTCGATGTTTATAAATGCTCGA c.1020
G Q N S G | W L F L D S S T S M F I N A R p.340
. . . . . . g.17107
GCAAGGGTTTATCATCTTCCAGATGCCAAAATGAGTAAAAAAGAAAAAATATCTGAAAAA c.1080
A R V Y H L P D A K M S K K E K I S E K p.360
. . | 07 . . . . g.19073
ATGGAAATTAAAGAAGGGGAAG | AAACAAAAAAGGAACTGGTCCTAGAAAGCAACCCAAAG c.1140
M E I K E G E E | T K K E L V L E S N P K p.380
. . . . . . g.19133
TGGGAGGCACTGACTGAAGTATTAAAAGAAATTGAGGCAGAAAATAAGGAGAGTGAAGCT c.1200
W E A L T E V L K E I E A E N K E S E A p.400
. | 08 . . . . . g.20036
CTTGGTGGTCCAG | GTCAAGTACTGATTTGTGCAAGTGATGACCGAACATGTTCCCAGCTG c.1260
L G G P G | Q V L I C A S D D R T C S Q L p.420
. . . . . . g.20096
AGAGACTATATCACTCTTGGAGCGGAGGCCTTCTTATTGAGGCTCTACAGGAAAACCTTT c.1320
R D Y I T L G A E A F L L R L Y R K T F p.440
. . . . . . g.20156
GAGAAGGATAGCAAAGCTGAAGAAGTCTGGATGAAATTTAGGAAGGAAGACAGTTCAAAG c.1380
E K D S K A E E V W M K F R K E D S S K p.460
. . . . . . g.20216
AGAATTAGGAAATCTCACAAAAGACCTAAAGACCCCCAAAACAAAGAACGGGCTTCTACC c.1440
R I R K S H K R P K D P Q N K E R A S T p.480
. . . . . . g.20276
AAAGAAAGAACCCTCAAAAAGAAAAAACGGAAGTTGACCTTAACTCAAATGGTAGGAAAA c.1500
K E R T L K K K K R K L T L T Q M V G K p.500
. . . . . . g.20336
CCTGAAGAACTGGAAGAGGAAGGAGATGTCGAGGAAGGATATCGTCGAGAAATAAGCAGT c.1560
P E E L E E E G D V E E G Y R R E I S S p.520
. . . . . . g.20396
AGCCCAGAAAGCTGCCCGGAAGAAATTAAGCATGAAGAATTTGATGTAAATTTGTCATCG c.1620
S P E S C P E E I K H E E F D V N L S S p.540
. . . . . . g.20456
GATGCTGCTTTCGGAATCCTGAAAGAACCCCTCACTATCATCCATCCGCTTCTGGGTTGC c.1680
D A A F G I L K E P L T I I H P L L G C p.560
. . . . . . g.20516
AGCGACCCCTATGCTCTGACAAGGGTACTACATGAAGTGGAGCCAAGATACGTGGTTCTT c.1740
S D P Y A L T R V L H E V E P R Y V V L p.580
. . . . . . g.20576
TATGACGCAGAGCTAACCTTTGTTCGGCAGCTTGAAATTTACAGGGCGAGTAGGCCTGGG c.1800
Y D A E L T F V R Q L E I Y R A S R P G p.600
. | 09 . . . . . g.22658
AAACCTCTGAG | GGTTTACTTTCTTATATACGGAGGTTCAACTGAGGAACAACGCTATCTC c.1860
K P L R | V Y F L I Y G G S T E E Q R Y L p.620
. . . . | 10 . . g.29582
ACTGCTTTGCGGAAAGAAAAGGAAGCTTTTGAAAAACTCATAAG | GGAAAAAGCAAGCATG c.1920
T A L R K E K E A F E K L I R | E K A S M p.640
. . . . . . g.29642
GTTGTCCCTGAAGAAAGAGAAGGCAGAGATGAAACAAACTTAGACCTAGTAAGAGGCACA c.1980
V V P E E R E G R D E T N L D L V R G T p.660
. . . | 11. . . g.32480
GCATCTGCAGATGTTTCCACTGACACTCGGAAAGCCG | GTGGCCAGGAACAGAATGGTACA c.2040
A S A D V S T D T R K A G | G Q E Q N G T p.680
. . . . . . g.32540
CAGCAAAGCATAGTTGTGGATATGCGTGAATTTCGAAGTGAGCTTCCATCTCTGATCCAT c.2100
Q Q S I V V D M R E F R S E L P S L I H p.700
. . . . . . g.32600
CGTCGGGGCATTGACATTGAACCCGTGACTTTAGAGGTTGGAGATTACATCCTCACTCCA c.2160
R R G I D I E P V T L E V G D Y I L T P p.720
. . . . . . g.32660
GAAATGTGCGTGGAGCGCAAGAGTATCAGTGATTTAATCGGCTCTTTAAATAACGGCCGC c.2220
E M C V E R K S I S D L I G S L N N G R p.740
. . . . . . g.32720
CTCTACAGCCAGTGCATCTCCATGTCCCGCTACTACAAGCGTCCCGTGCTTCTGATTGAG c.2280
L Y S Q C I S M S R Y Y K R P V L L I E p.760
. . . . . . g.32780
TTTGACCCTAGCAAGCCTTTCTCTCTCACTTCCCGAGGTGCCTTGTTTCAGGAGATCTCC c.2340
F D P S K P F S L T S R G A L F Q E I S p.780
. . . . . . g.32840
AGCAATGACATTAGTTCCAAACTCACTCTTCTTACACTTCACTTCCCCAGACTACGGATT c.2400
S N D I S S K L T L L T L H F P R L R I p.800
. . . . . . g.32900
CTCTGGTGCCCCTCTCCTCATGCAACGGCGGAGTTGTTTGAGGAGCTGAAACAAAGCAAG c.2460
L W C P S P H A T A E L F E E L K Q S K p.820
. . . . . . g.32960
CCACAGCCTGATGCGGCGACAGCACTGGCCATTACAGCAGATTCTGAAACCCTTCCCGAG c.2520
P Q P D A A T A L A I T A D S E T L P E p.840
. . . . . . g.33020
TCAGAGAAGTATAATCCTGGTCCCCAAGACTTCTTGTTAAAAATGCCAGGGGTGAATGCC c.2580
S E K Y N P G P Q D F L L K M P G V N A p.860
. . . . . . g.33080
AAAAACTGCCGCTCCTTGATGCACCACGTTAAGAACATCGCAGAATTAGCAGCCCTGTCA c.2640
K N C R S L M H H V K N I A E L A A L S p.880
. . . . . . g.33140
CAAGACGAGCTCACGAGTATTCTGGGGAATGCTGCAAATGCCAAACAGCTTTATGATTTC c.2700
Q D E L T S I L G N A A N A K Q L Y D F p.900
. . . . . g.33191
ATTCACACCTCTTTTGCAGAAGTCGTATCAAAAGGAAAAGGGAAAAAGTGA c.2751
I H T S F A E V V S K G K G K K X p.916
. . . . . . g.33251
acagtgatggctgttttcttatcccatgcctgtacttttcagcggctccttgccagacat c.*60
. . . . . . g.33311
cataggtcattattaattattggtttgctatttcattcttttccaatgctcttaatgatt c.*120
. . . . . . g.33371
gtacggtggaccagaagccaggattcctctctgaactctgcagttaggcatcacttgaac c.*180
. . . . . . g.33431
ttgcctgtgcctgctctttttcctccctgcaccgtctatgccgggcttagcatgtttctt c.*240
. . . . . . g.33491
tttaaatgaggtttgtcaggatcaggtaaagttcctacaagtgattacagaaggtagaaa c.*300
. . . . . . g.33551
ctttacctgatcctaacagatctcatttagaaaggaatatgctaagcctggcatggacgg c.*360
. . . . . . g.33611
tgcagggagggaaaagagcaggcacaagaaagctaccatttttaacagtccttgttatct c.*420
. . . . . . g.33671
agtgcaacataaataacagtcttaattgcacttatacccatgtcctgtggctctccaaat c.*480
. . . . . . g.33731
ctggtctttgctgttgtgtctgctggacgcttgaactgatgtttgtgtaggaaatcatgt c.*540
. . . . . . g.33791
tctgaccctttgtctacaaaggagccttctggaacactgagaagaaacatctctttgcca c.*600
. . . . . . g.33851
ttcctgaccagttctctctaccacattttcttcagctccatacttctgcctgtctgctct c.*660
. . . . . . g.33911
aaggaaatttcatggagccttcctactactaattcaagacagtctcctcaaaaactggtt c.*720
. . . . . . g.33971
gactagtcttctaatgaccctaacatatgtagcatatactataatttcattgttccaaat c.*780
. . . . . . g.34031
tagtatttttaaagcaaaatgaattacctgtttgcaaaagttaatgatgaaggagctctt c.*840
. . . . . . g.34091
agaattctcaatttttgcacatattcagtctcctaatatcagagatccctaagtccagct c.*900
. . . . . . g.34151
ggctagttacagagttttttcagacttcctcgtttctcagctcttatatcctaagacacc c.*960
. . . . . . g.34211
agcatcatatcctctagaaatacaacctaattggcagtgagccgagatcgcaccactgca c.*1020
. . . . . . g.34271
cccctgcctgggcgacagagtgagactttgtctctattacaaaaagaaaagaaaagaaat c.*1080
. . . . . . g.34331
acaacctaagctcacctgcctgtgattcctcatttctcaccatcctgtgccagggtggct c.*1140
. . . . . . g.34391
acttctctctgtgaggactcaaatacaagccaatgagtggcccactaagcttttaagatt c.*1200
. . . . . . g.34451
tgattttcctgccttgagataaaaaggagtgtaggtaaatgaaagatcaatgtatggaat c.*1260
. . . . . . g.34511
atataaaaatacgaaagaaatatatacgtttaaaaatccataaagaaaaaaatctcattc c.*1320
. . . . . . g.34571
taaacctgattaagttggctttttacgtaagtgtacaaataggatattcacagcatcttt c.*1380
. . . . . . g.34631
gtgcagtttttaaacttttatatttaaacattattaagttggcttttgttcacatgttga c.*1440
. . . . . . g.34691
gtaatgggtagtaaattttctacctcaggagctgatatagacatcagttctgctagccat c.*1500
. . . . . . g.34751
atcacatattttaatgtttcatcaacatcagctgtttttttgtttgctacactatttgaa c.*1560
. . . . . . g.34811
ctaatagacagtggatcatgtaacacaaaattgtcttcaactttaacaaaattgtcattg c.*1620
. . . . . . g.34871
ttatttttttttgagacagagtctccctctgttgcccaggctggagtgcagtggcgcaat c.*1680
. . . . . . g.34931
ctcggctcactgcaacctcgcctgctgggttcaagcagttctcccacctcagcctcccaa c.*1740
. . . . . . g.34991
gtagctgggattataggtgtgcaccaccagacccggctaatttttgtatttttagtagag c.*1800
. . . . . . g.35051
acggggtttcaccatgttggccaggctggtctcaaactactgacctcaggtgatccaccc c.*1860
. . . . . . g.35111
accttggcctcccaaagtgctgagataacaggcgtgagccaccgcacccacccaacaaaa c.*1920
. . . . . . g.35171
ttatttttaactgtcgtttctgaactgaacctctcacattggcatcttgatttattggta c.*1980
. . . . . . g.35231
cttaacagtatatatggattttgaactctacacaagggtataaccagaatgaattgaggg c.*2040
. . . . . . g.35291
gtatcaagaaccagattggttacagtagaactctgtaagatgatgtggagagtaaggaaa c.*2100
. . . . . . g.35351
aggagaagaaataaaaattagtttaagatggaataaagatttgggctgctaattttttcc c.*2160
. . . . . . g.35411
caggattcaaaatatacccgctagaatggaaaacaaaaatttgaatgattacaacattat c.*2220
. . . . . . g.35471
cgttaacattcaattttgtatttattgttttattgaatatagttcagagtatattaaaat c.*2280
. . . . . . g.35531
agacctaccacttcaaatgataatgattattataatgtctcttcaccctattctagcact c.*2340
. . . . . . g.35591
tctgcttgcagtatgtggtttctatttttttcctcttgtataattccacttgcttttaat c.*2400
. . . . . . g.35651
tgttgtttcattatataaaaggaacatcttcccatagcatattctatgaaaggggtttca c.*2460
. . . . . . g.35711
ttccaagttgagttttcaaaaaaaaggtcttcctaaagctaccattttcaaccgtccttg c.*2520
. . . . . . g.35771
ttatctagtacaacataaataacagtcttaaaaattgcactaataccagtgcccccctgg c.*2580
. . . . . . g.35831
ctctccaaatctgttctttgctcttgtatctgctggacgcttgaagacaggtgcactgtc c.*2640
. . . . . . g.35891
tcgtatgtatttgaattatgaacagtaatttctaatgaattctaaaatggtcattgtaag c.*2700
. . . . . . g.35951
tgaaagcctctcgctaccacttcctcttccaactacataaatatatttcaatgtatttcc c.*2760
. . . . . . g.36011
agttttggaaagttttcaatacatacatcaagtgtttacttagatttttataaaaatttt c.*2820
. . . . . . g.36071
ttttacaatctaataatctttggtaaaggaactagagatgcatgcagttgcaaaattaat c.*2880
. . . . . . g.36131
gtatttattttccagcataattttattaacttcactttttttctctctagtaaatatcca c.*2940
. . . . . . g.36191
gtgtacttatgaactcatgtttggctcttttaaaaccttttctaaaagctagatcagcat c.*3000
. . . . . . g.36251
ttttctattttacaagttttttgtataaaaaggtgaacatatgagatattgtgagaaatc c.*3060
. . . . . . g.36311
attttaagtttcatttaaatcatggtgcctcttttgatactttcttaaaattgtgcaaga c.*3120
. . . . . . g.36371
agaaatcatttttagtagtggtcataaatattatccttttggcagtaagctattactaat c.*3180
. . . . . . g.36431
tcagcctgaagctcggtagacaatatgtctacatgtgtttgagtacatcctggatacagt c.*3240
. . . . . . g.36491
ttcccagctcatgagggactgaaaatagtcttattcatcaacccactaggatgtgaaggg c.*3300
. . . . . . g.36551
ttaagtctagatttggtcgcattgaaaccccacaatatagaattaataaatggccttcag c.*3360
. . . . . . g.36611
taggaaaacctacactaaagcaaatccgaagaagtggggcagggggaaagaggcattact c.*3420
. . . . . . g.36671
ggtctttccttttgttttgcaagcataatttgattttcctttggctcagaaaactcattt c.*3480
. . . . . . g.36731
ggggaaattctcttttgtgttcagtttaacctagaaaggtcctcttgaaaaaccaacatt c.*3540
. . . . . . g.36791
ttaggaaagttcttttttcaggatggagtatattaaaattaagccaggctttgacgtgaa c.*3600
. . . . . . g.36851
ttatcacttttctttattattttgttttctattttggtttatagctatttctggttcagt c.*3660
. . . . . . g.36911
tctgaacttcagcacttaatcatccttatcaaccaggcttttggtagcctaaaccgctat c.*3720
. . . . . . g.36971
gctgttgtttttttaatttaaagatgtataagccaaaatttggatgggagtgagacataa c.*3780
. . . . . . g.37031
ctgatttatatgaattttaacagagttgtatttgtgtgtgtttaataaaatatatattta c.*3840
. . . . . . g.37091
ttcagtactttcctcagtattttatgggcaaagtaaaaataacaatgcatagtgaaaggg c.*3900
. . . . . . g.37151
catatattaccagcagtaataattcaaaatcctgaaaatgtttcattttttttgtttttg c.*3960
. . . . g.37192
ttatgcagaataaacaaggcagaaatgctctttgaaccact c.*4001
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 11c
©2004-2014 Leiden University Medical Center