(used for variant description)
(last modified November 25, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000082.3 in the ERCC8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009289.1, covering ERCC8 transcript NM_000082.3.
(upstream sequence)
. g.5010
gctgttccag c.-61
. . . . . . g.5070
tcccgcccctgagctctgtcatggcgacgtccagtgctccagccggtgtgaggacacgat c.-1
. . . . . . g.5130
ATGCTGGGGTTTTTGTCCGCACGCCAAACGGGTTTGGAGGACCCTCTTCGCCTTCGGAGA c.60
M L G F L S A R Q T G L E D P L R L R R p.20
. | 02. . . . . g.21162
GCAGAGTCAACACGGAG | AGTTTTGGGACTGGAATTAAATAAAGACAGAGATGTTGAAAGA c.120
A E S T R R | V L G L E L N K D R D V E R p.40
. . . . . | 03 . g.27930
ATCCACGGCGGTGGAATTAACACCCTTGACATTGAACCTGTTGAAGGGAGATA | CATGTTA c.180
I H G G G I N T L D I E P V E G R Y | M L p.60
. . . . . . g.27990
TCAGGTGGTTCAGATGGTGTGATTGTACTTTATGACCTTGAGAACTCCAGCAGACAATCT c.240
S G G S D G V I V L Y D L E N S S R Q S p.80
. . . | 04 . . . g.31715
TATTACACATGTAAAGCAGTGTGTTCCATTGGCAG | AGATCATCCTGATGTTCACAGATAC c.300
Y Y T C K A V C S I G R | D H P D V H R Y p.100
. . . . . . g.31775
AGTGTGGAGACTGTACAGTGGTATCCTCATGACACTGGCATGTTCACATCAAGCTCATTT c.360
S V E T V Q W Y P H D T G M F T S S S F p.120
. . . | 05 . . g.45226
GATAAAACTCTGAAAGTATGGGATACAAATACATTACAA | ACTGCAGATGTATTTAATTTT c.420
D K T L K V W D T N T L Q | T A D V F N F p.140
. . . . . . g.45286
GAGGAAACAGTTTATAGTCATCATATGTCTCCAGTCTCCACCAAGCACTGTTTGGTAGCA c.480
E E T V Y S H H M S P V S T K H C L V A p.160
| 06 . . . . . . g.46421
G | TTGGTACTAGAGGACCCAAAGTACAACTTTGTGACTTGAAGTCTGGATCCTGTTCTCAC c.540
V | G T R G P K V Q L C D L K S G S C S H p.180
. | 07 . . . . . g.47620
ATTCTACAGG | GTCACAGACAAGAAATATTAGCAGTTTCCTGGTCTCCACGTTATGACTAT c.600
I L Q G | H R Q E I L A V S W S P R Y D Y p.200
. | 08. . . . . g.50394
ATCTTGGCAACAGCAAG | TGCTGACAGTAGAGTAAAATTATGGGATGTGAGAAGAGCATCA c.660
I L A T A S | A D S R V K L W D V R R A S p.220
. . . . . | 09 g.51680
GGATGTTTGATTACTCTTGATCAACATAATGGGAAAAAGTCACAAGCTGTTGAATCAG | CA c.720
G C L I T L D Q H N G K K S Q A V E S A | p.240
. . . . . . g.51740
AACACTGCTCATAATGGGAAAGTTAATGGCTTATGTTTTACAAGTGATGGACTTCACCTC c.780
N T A H N G K V N G L C F T S D G L H L p.260
. . . . . . g.51800
CTCACTGTTGGTACAGATAATCGAATGAGGCTCTGGAATAGTTCCAATGGAGAAAACACA c.840
L T V G T D N R M R L W N S S N G E N T p.280
| 10 . . . . . . g.59049
CTT | GTGAACTATGGAAAAGTTTGTAATAACAGTAAAAAAGGATTGAAATTCACTGTCTCC c.900
L | V N Y G K V C N N S K K G L K F T V S p.300
. . . . . . g.59109
TGTGGCTGCAGTTCAGAATTTGTTTTTGTACCATATGGTAGCACCATTGCTGTTTATACA c.960
C G C S S E F V F V P Y G S T I A V Y T p.320
. . . . . . g.59169
GTTTACTCAGGAGAACAGATAACTATGCTTAAGGGACATTATAAAACTGTTGACTGCTGT c.1020
V Y S G E Q I T M L K G H Y K T V D C C p.340
. . | 11 . . . . g.62597
GTATTTCAGTCAAATTTCCAG | GAACTTTATAGTGGTAGCAGAGACTGCAACATTCTGGCT c.1080
V F Q S N F Q | E L Y S G S R D C N I L A p.360
. . . . | 12 . . g.75413
TGGGTTCCATCCTTATATGAACCAGTTCCTGATGATGATGAG | ACTACAACAAAATCACAA c.1140
W V P S L Y E P V P D D D E | T T T K S Q p.380
. . . . . g.75464
TTAAATCCGGCCTTTGAAGATGCCTGGAGCAGCAGTGATGAAGAAGGATGA c.1191
L N P A F E D A W S S S D E E G X p.396
. . . . . . g.75524
atatcatctttagtacctttttgtctctgctgaaactttttaaatgagactgtgtttttt c.*60
. . . . . . g.75584
tcaactgtatggtctattcctgacagctaaattagccctaaatgtgggtaatatttttcc c.*120
. . . . . . g.75644
tcatgttttaaaatgaggttaatatttgcataaaatcctaaaacagacttctgtatagtt c.*180
. . . . . . g.75704
tatttagtcaaaatgtgttccttgatcccagatgttgtggcctgggaaagccctcattgc c.*240
. . . . . . g.75764
tacagtacaagtaacacaagtcgttgtacctcagttgtgaccttcagcagattttatgaa c.*300
. . . . . . g.75824
ctataagatgcagtctcagaggatcagcaagtggaggccatcagtattgactttctctta c.*360
. . . . . . g.75884
cttgctgtactatcagcctgctcgtttccacctttaagaatgattttgccaagaatgatt c.*420
. . . . . . g.75944
atatcaaaaatagtagttgaaatggtaacatcaaaattattttattctttcttcttcatg c.*480
. . . . . . g.76004
tattcacatttttcagtggtttcatttaattaaccatgctttatgttaaacattttgggg c.*540
. . . . . . g.76064
ctcaatgtctcctactatccaaaatgtgcatcacaggaggcttttaactttgtgaaaatc c.*600
. . . . . . g.76124
ccatgtttgctttattttattttaatgtcagaaggcagtttgcgctaatgcttgaactct c.*660
. . . . . . g.76184
ttttctgtgaaactcattaaggtatgaccaaatcctgcctcattaattcaagcagaaaat c.*720
. . . . . . g.76244
atcctggcagggaatctggcttaaacatgaaatgctgtaataaaatttctatgttattgt c.*780
g.76247
ctc c.*783
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 14
©2004-2015 Leiden University Medical Center