(used for variant description)
(last modified November 25, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000124.2 in the ERCC6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009442.1, covering ERCC6 transcript NM_000124.2.
(upstream sequence)
. . . g.5034
agcagaagtcggagtcgctgttgggggcggtgtc c.-121
. . . . . . g.5094
tatggttgagctgagggcgcaggcgccacggcccgtcgagctgggttccaaggcggctgg c.-61
. . . . . | 02 . g.11137
cggcggtagcgtctctgtttccttgtgggcgctcgcgcggccctgg | gtagtctgtagaga c.-1
. . . . . . g.11197
ATGCCAAATGAGGGAATCCCCCACTCAAGTCAAACTCAGGAGCAAGACTGTTTACAGAGT c.60
M P N E G I P H S S Q T Q E Q D C L Q S p.20
. . . . . . g.11257
CAACCTGTCAGTAATAATGAAGAAATGGCAATCAAGCAAGAAAGTGGTGGTGATGGGGAG c.120
Q P V S N N E E M A I K Q E S G G D G E p.40
. . . . . . g.11317
GTGGAGGAGTACCTCTCCTTTCGTTCTGTGGGTGACGGGCTGTCCACCTCTGCTGTGGGG c.180
V E E Y L S F R S V G D G L S T S A V G p.60
. . . . . . g.11377
TGCGCATCAGCAGCTCCGAGGAGAGGGCCAGCCCTGCTGCACATCGACCGACATCAGATC c.240
C A S A A P R R G P A L L H I D R H Q I p.80
. . . . . . g.11437
CAGGCAGTAGAGCCTAGCGCCCAGGCCCTTGAGCTGCAGGGTTTGGGTGTGGACGTCTAT c.300
Q A V E P S A Q A L E L Q G L G V D V Y p.100
. . . . . . g.11497
GACCAGGACGTGCTGGAACAGGGAGTGCTTCAGCAGGTGGACAATGCCATCCATGAGGCC c.360
D Q D V L E Q G V L Q Q V D N A I H E A p.120
. . . . . . g.11557
AGCCGTGCCTCCCAGCTCGTTGACGTGGAGAAGGAGTATCGGTCGGTCCTGGATGACCTC c.420
S R A S Q L V D V E K E Y R S V L D D L p.140
| 03 . . . . . . g.13319
AC | GTCATGTACGACATCCCTAAGGCAAATCAATAAAATTATTGAACAGCTTAGCCCTCAA c.480
T | S C T T S L R Q I N K I I E Q L S P Q p.160
. . . . . . g.13379
GCTGCCACCAGCAGAGACATCAACAGGAAACTAGATTCTGTAAAACGACAGAAGTATAAT c.540
A A T S R D I N R K L D S V K R Q K Y N p.180
| 04 . . . . . . g.15633
AAG | GAACAACAGCTAAAAAAGATCACTGCAAAACAAAAGCATCTCCAGGCCATCCTTGGA c.600
K | E Q Q L K K I T A K Q K H L Q A I L G p.200
. . . . . | 05 . g.19332
GGAGCAGAGGTGAAAATTGAACTAGATCACGCCAGTCTGGAGGAGGATGCAG | AGCCGGGG c.660
G A E V K I E L D H A S L E E D A E | P G p.220
. . . . . . g.19392
CCATCCAGTCTTGGCAGCATGCTCATGCCTGTCCAGGAGACTGCCTGGGAAGAGCTCATC c.720
P S S L G S M L M P V Q E T A W E E L I p.240
. . . . . . g.19452
CGCACTGGCCAGATGACACCTTTTGGTACCCAGATCCCTCAGAAACAGGAGAAAAAGCCC c.780
R T G Q M T P F G T Q I P Q K Q E K K P p.260
. . . . . . g.19512
AGAAAAATCATGCTTAATGAAGCATCAGGCTTCGAAAAGTATTTGGCAGATCAAGCAAAA c.840
R K I M L N E A S G F E K Y L A D Q A K p.280
. . . . . . g.19572
CTGTCTTTTGAAAGGAAGAAGCAAGGTTGTAATAAAAGAGCAGCTAGAAAAGCTCCAGCC c.900
L S F E R K K Q G C N K R A A R K A P A p.300
. . . . . . g.19632
CCAGTCACGCCTCCAGCCCCAGTGCAAAATAAAAACAAACCAAACAAGAAAGCCAGAGTT c.960
P V T P P A P V Q N K N K P N K K A R V p.320
. . . . . . g.19692
CTGTCCAAAAAAGAGGAGCGTTTGAAAAAGCACATCAAGAAACTCCAGAAGAGGGCTTTG c.1020
L S K K E E R L K K H I K K L Q K R A L p.340
. . . . . . g.19752
CAGTTCCAGGGGAAAGTGGGATTGCCAAAGGCAAGGAGACCTTGGGAGTCAGACATGAGG c.1080
Q F Q G K V G L P K A R R P W E S D M R p.360
. . . . . . g.19812
CCAGAGGCAGAGGGAGACTCTGAGGGTGAAGAGTCTGAGTATTTCCCCACAGAGGAGGAG c.1140
P E A E G D S E G E E S E Y F P T E E E p.380
. . . . . . g.19872
GAAGAGGAGGAAGATGACGAGGTGGAGGGGGCAGAGGCGGACCTGTCTGGAGATGGTACT c.1200
E E E E D D E V E G A E A D L S G D G T p.400
. . . . . . g.19932
GACTATGAGCTGAAGCCTCTGCCCAAGGGCGGGAAACGGCAGAAGAAAGTGCCAGTGCAG c.1260
D Y E L K P L P K G G K R Q K K V P V Q p.420
. . . . . . g.19992
GAGATTGATGATGACTTTTTCCCAAGTTCTGGGGAAGAAGCTGAAGCTGCTTCTGTAGGA c.1320
E I D D D F F P S S G E E A E A A S V G p.440
. . . . . . g.20052
GAAGGAGGAGGAGGAGGTCGGAAAGTGGGAAGATACCGAGATGATGGAGATGAAGATTAT c.1380
E G G G G G R K V G R Y R D D G D E D Y p.460
. | 06. . . . . g.38132
TATAAGCAGCGGTTAAG | GAGATGGAATAAACTGAGACTGCAGGACAAAGAGAAACGTCTG c.1440
Y K Q R L R | R W N K L R L Q D K E K R L p.480
. . . . . . g.38192
AAGCTGGAGGACGATTCTGAGGAAAGTGATGCTGAATTTGACGAAGGTTTTAAAGTGCCA c.1500
K L E D D S E E S D A E F D E G F K V P p.500
. . | 07 . . . . g.43439
GGTTTTCTGTTCAAAAAGCTTTTTAA | GTACCAGCAGACAGGTGTTAGGTGGCTGTGGGAA c.1560
G F L F K K L F K | Y Q Q T G V R W L W E p.520
. . . . . . g.43499
TTGCACTGCCAGCAGGCAGGAGGAATTCTGGGAGATGAAATGGGATTGGGCAAGACCATC c.1620
L H C Q Q A G G I L G D E M G L G K T I p.540
. . . . . . g.43559
CAGATAATTGCCTTCTTGGCAGGTCTGAGCTACAGCAAGATCAGGACTCGTGGTTCAAAT c.1680
Q I I A F L A G L S Y S K I R T R G S N p.560
| 08 . . . . . . g.50904
TACAG | GTTTGAGGGGTTGGGTCCAACTGTAATTGTCTGTCCAACAACAGTGATGCATCAG c.1740
Y R | F E G L G P T V I V C P T T V M H Q p.580
. . . . . . g.50964
TGGGTGAAGGAATTTCACACGTGGTGGCCTCCGTTCAGAGTGGCAATTCTACATGAAACC c.1800
W V K E F H T W W P P F R V A I L H E T p.600
. . | 09 . . . . g.60624
GGTTCCTATACCCACAAAAAG | GAGAAACTAATTCGAGATGTTGCTCATTGTCATGGAATT c.1860
G S Y T H K K | E K L I R D V A H C H G I p.620
. . . . . . g.60684
TTGATCACATCTTACTCCTACATTCGATTGATGCAGGATGACATTAGCAGGTATGACTGG c.1920
L I T S Y S Y I R L M Q D D I S R Y D W p.640
. . . . . . g.60744
CACTATGTGATCTTGGACGAAGGACACAAAATTCGAAATCCAAATGCTGCTGTCACCCTT c.1980
H Y V I L D E G H K I R N P N A A V T L p.660
. | 10 . . . . . g.61286
GCTTGCAAACAG | TTTCGCACCCCTCATCGGATCATTCTGTCTGGCTCACCGATGCAAAAT c.2040
A C K Q | F R T P H R I I L S G S P M Q N p.680
. . . . . . g.61346
AACCTCCGAGAGCTGTGGTCGCTCTTTGACTTCATCTTCCCGGGAAAGTTAGGCACGTTG c.2100
N L R E L W S L F D F I F P G K L G T L p.700
. . . . . . g.61406
CCTGTGTTTATGGAGCAGTTCTCCGTCCCCATCACCATGGGGGGATATTCAAATGCTTCC c.2160
P V F M E Q F S V P I T M G G Y S N A S p.720
| 11 . . . . . g.65682
CCAGTACAG | GTCAAAACTGCTTACAAGTGTGCATGTGTCTTACGAGATACCATAAATCCA c.2220
P V Q | V K T A Y K C A C V L R D T I N P p.740
. . . . . . g.65742
TACCTACTGCGGAGAATGAAGTCAGATGTCAAGATGAGCCTTTCTTTGCCAGATAAAAAT c.2280
Y L L R R M K S D V K M S L S L P D K N p.760
| 12 . . . . . . g.67845
GAACAG | GTCTTATTTTGCCGTCTTACAGATGAGCAGCATAAAGTCTACCAAAATTTCGTT c.2340
E Q | V L F C R L T D E Q H K V Y Q N F V p.780
. . . . | 13 . . g.69877
GATTCCAAAGAAGTTTACAGGATTCTCAATGGAGAGATGCAG | ATTTTCTCCGGACTTATA c.2400
D S K E V Y R I L N G E M Q | I F S G L I p.800
. . . . . . g.69937
GCCCTAAGAAAAATTTGCAACCACCCTGATCTCTTTTCTGGAGGTCCCAAGAATCTCAAA c.2460
A L R K I C N H P D L F S G G P K N L K p.820
. . . . . . g.69997
GGTCTTCCTGATGATGAACTAGAAGAAGATCAGTTTGGGTACTGGAAACGTTCTGGGAAA c.2520
G L P D D E L E E D Q F G Y W K R S G K p.840
. . . . . . g.70057
ATGATTGTTGTTGAGTCTTTGTTGAAAATATGGCACAAGCAGGGTCAGCGAGTATTGCTG c.2580
M I V V E S L L K I W H K Q G Q R V L L p.860
. | 14 . . . . g.70556
TTTTCTCAGTCAAGGCAG | ATGCTGGACATACTTGAAGTATTCCTTAGAGCCCAAAAGTAT c.2640
F S Q S R Q | M L D I L E V F L R A Q K Y p.880
. . . . . . g.70616
ACCTATCTCAAGATGGATGGTACCACTACAATAGCTTCAAGACAGCCACTGATTACGAGA c.2700
T Y L K M D G T T T I A S R Q P L I T R p.900
| 15 . . . . . g.71124
TACAATGAG | GACACATCCATATTTGTGTTTCTTCTGACCACGCGGGTGGGCGGCTTAGGT c.2760
Y N E | D T S I F V F L L T T R V G G L G p.920
. . . . . . g.71184
GTCAACCTGACGGGGGCAAACAGAGTTGTCATCTATGACCCAGACTGGAACCCAAGCACG c.2820
V N L T G A N R V V I Y D P D W N P S T p.940
| 16 . . . . . g.71682
GACACGCAG | GCCCGGGAGCGAGCATGGAGAATAGGCCAGAAGAAGCAAGTGACTGTGTAC c.2880
D T Q | A R E R A W R I G Q K K Q V T V Y p.960
. . . . | 17 . . g.72997
AGGCTCCTGACTGCGGGCACCATTGAAGAAAAGATCTACCACCG | ACAAATCTTCAAGCAG c.2940
R L L T A G T I E E K I Y H R | Q I F K Q p.980
. . . . . . g.73057
TTTTTGACAAATAGAGTGCTAAAAGACCCAAAACAAAGGCGGTTTTTCAAATCCAATGAT c.3000
F L T N R V L K D P K Q R R F F K S N D p.1000
. . . . . . g.73117
CTCTATGAGCTATTTACTCTGACTAGTCCTGATGCATCCCAGAGCACTGAAACAAGTGCA c.3060
L Y E L F T L T S P D A S Q S T E T S A p.1020
. | 18 . . . . . g.73262
ATTTTTGCAG | GAACTGGATCAGATGTTCAGACACCCAAATGCCATCTAAAAAGAAGGATT c.3120
I F A G | T G S D V Q T P K C H L K R R I p.1040
. . . . . . g.73322
CAACCAGCCTTTGGAGCAGACCATGATGTTCCAAAACGCAAGAAGTTCCCTGCTTCTAAC c.3180
Q P A F G A D H D V P K R K K F P A S N p.1060
. . . . . . g.73382
ATATCTGTAAATGATGCCACATCATCTGAAGAGAAATCTGAGGCTAAAGGAGCTGAAGTA c.3240
I S V N D A T S S E E K S E A K G A E V p.1080
. . . . . . g.73442
AATGCAGTAACTTCTAATCGAAGTGATCCTTTGAAAGATGACCCTCACATGAGTAGTAAT c.3300
N A V T S N R S D P L K D D P H M S S N p.1100
. . . . . . g.73502
GTAACTAGCAATGATAGGCTTGGAGAAGAGACAAATGCAGTATCTGGACCAGAAGAGTTG c.3360
V T S N D R L G E E T N A V S G P E E L p.1120
. . . . . . g.73562
TCAGTGATTAGTGGAAATGGGGAATGTTCAAATTCTTCAGGAACAGGCAAAACTTCTATG c.3420
S V I S G N G E C S N S S G T G K T S M p.1140
. . . . . . g.73622
CCATCTGGTGATGAAAGCATTGATGAAAAGTTAGGTCTTTCTTACAAAAGAGAAAGACCC c.3480
P S G D E S I D E K L G L S Y K R E R P p.1160
. . . . . . g.73682
AGCCAGGCTCAAACAGAAGCTTTTTGGGAGAATAAACAAATGGAAAATAATTTTTATAAG c.3540
S Q A Q T E A F W E N K Q M E N N F Y K p.1180
. . . . . . g.73742
CACAAGTCAAAAACAAAACATCATAGTGTGGCAGAAGAAGAGACCCTGGAGAAACATCTG c.3600
H K S K T K H H S V A E E E T L E K H L p.1200
. . . . . . g.73802
AGACCAAAGCAAAAGCCTAAGAACTCTAAGCATTGCAGAGACGCCAAGTTTGAAGGAACT c.3660
R P K Q K P K N S K H C R D A K F E G T p.1220
. . . . . . g.73862
CGAATTCCACACCTGGTGAAGAAAAGGCGTTACCAGAAGCAAGACAGTGAAAACAAGAGT c.3720
R I P H L V K K R R Y Q K Q D S E N K S p.1240
. . . . . | 19 g.82547
GAGGCCAAGGAACAGAGCAATGACGATTATGTTTTGGAAAAGCTTTTCAAAAAATCAG | TT c.3780
E A K E Q S N D D Y V L E K L F K K S V | p.1260
. . . . . . g.82607
GGCGTGCACAGTGTCATGAAGCACGATGCCATCATGGATGGAGCCAGCCCAGATTATGTA c.3840
G V H S V M K H D A I M D G A S P D Y V p.1280
. . . . . . g.82667
CTGGTGGAGGCAGAAGCCAACCGAGTGGCCCAGGATGCCCTGAAAGCACTGAGGCTCTCT c.3900
L V E A E A N R V A Q D A L K A L R L S p.1300
. . . . . . g.82727
CGTCAGCGGTGTCTGGGAGCAGTGTCTGGTGTTCCCACCTGGACTGGCCACAGGGGGATT c.3960
R Q R C L G A V S G V P T W T G H R G I p.1320
. . | 20 . . . . g.83687
TCTGGTGCACCAGCAGGAAAAAA | GAGTAGATTTGGTAAGAAAAGGAATTCTAACTTCTCT c.4020
S G A P A G K K | S R F G K K R N S N F S p.1340
. . . . | 21 . . g.84885
GTGCAGCATCCTTCATCAACATCTCCAACAGAGAAGTGCCAG | GATGGCATCATGAAAAAG c.4080
V Q H P S S T S P T E K C Q | D G I M K K p.1360
. . . . . . g.84945
GAGGGAAAAGATAATGTCCCTGAGCATTTTAGTGGAAGAGCAGAAGATGCAGACTCTTCA c.4140
E G K D N V P E H F S G R A E D A D S S p.1380
. . . . . . g.85005
TCCGGGCCCCTCGCTTCCTCCTCACTCTTGGCTAAAATGAGAGCTAGAAACCACCTGATT c.4200
S G P L A S S S L L A K M R A R N H L I p.1400
. . . . . . g.85065
CTGCCAGAGCGTTTAGAAAGTGAAAGCGGGCACCTGCAGGAAGCTTCTGCCCTGCTGCCC c.4260
L P E R L E S E S G H L Q E A S A L L P p.1420
. . . . . . g.85125
ACCACAGAACACGATGACCTTCTGGTGGAGATGAGAAACTTCATCGCTTTCCAGGCCCAC c.4320
T T E H D D L L V E M R N F I A F Q A H p.1440
. . . . . . g.85185
ACTGATGGCCAGGCCAGCACCAGGGAGATACTGCAGGAGTTTGAATCCAAGTTATCTGCA c.4380
T D G Q A S T R E I L Q E F E S K L S A p.1460
. . . . . . g.85245
TCACAGTCTTGTGTCTTCCGAGAACTATTGAGAAATCTGTGCACTTTCCATAGAACTTCT c.4440
S Q S C V F R E L L R N L C T F H R T S p.1480
. . . . g.85287
GGTGGTGAAGGAATTTGGAAACTCAAGCCAGAATACTGCTAA c.4482
G G E G I W K L K P E Y C X p.1493
. . . . . . g.85347
acaacattgcttcctaaactttcaagtccctttttctaacgggcatttctgattattaat c.*60
. . . . . . g.85407
ttattattaataatcatgtttgtcaatggaagttggctgcacttgatgtttgtttgcatg c.*120
. . . . . . g.85467
atgtctacctcagaattaaaactttaaggaagaagaaactcttctctgaaagttaaaagt c.*180
. . . . . . g.85527
tttaataatgctagctaaaggagaaaatacttggattgatttttttttttttggcaatct c.*240
. . . . . . g.85587
aattatattgtaaatcaggtacctaacagttactccttggagcacatttgttcctttacc c.*300
. . . . . . g.85647
caaaagatgctgtcagggagcacagttagaagtttgcagaacagaaatctcaatattttt c.*360
. . . . . . g.85707
ttttattggtgctaaaaacaggtcttacattcagtcagacctgttcaataagttcatcaa c.*420
. . . . . . g.85767
tatctgataacagcattattttgatgcttaaactttaaacatttatatttaccatttgcc c.*480
. . . . . . g.85827
acccacaaaggtcaggtttgttatttgttgtttgataattatattaattttcttggaaag c.*540
. . . . . . g.85887
atcctcttttcaaggtactggtaaattggtgagtatttttattagtaaagcatgaaatag c.*600
. . . . . . g.85947
tatggtaataaatgataagacatgtatttgtggaaagctgtagggtattcagtttaccct c.*660
. . . . . . g.86007
ggctttcctttaagcagagggcatctttttctctcctacagtcacaaaatgtgttatcat c.*720
. . . . . . g.86067
taaaaaaaatcaaattaaagccaaaagtaggtacataaaaaccacacacatgcatgcaca c.*780
. . . . . . g.86127
caaacatcactgcagcccacagcagacccagccgttgttaccatgaagtgacaccactcc c.*840
. . . . . . g.86187
aggcctctcttgtctgcaggctggcaggctgtcttctctccagttgccttcgtcttgcgc c.*900
. . . . . . g.86247
ctgcctttgcattccttgcgacgggctttcttgtttctgcggtttggattccagccaagg c.*960
. . . . . . g.86307
ctgtttgtatctcactactgtttatgtgtttgtggttctgtgatggtgttgctttgatcc c.*1020
. . . . . . g.86367
tcagtttattttcttacccatgtttttcttgtttccttctcaggatgattttatcatctc c.*1080
. . . . . . g.86427
atctttgaagtgttgttttccgaaattcatcgtattcctgaaatttcttcttagctgtct c.*1140
. . . . . . g.86487
tagtgcagtttgtttcttggatttgtattctctggcatgctcttttcctctctctcattt c.*1200
. . . . . . g.86547
ttctgtagtatgcctgccctcctaccctgctatttctttacatctctctcatgcttaaca c.*1260
. . . . . . g.86607
tggatagctgtgtccagatcttctgtctgctcatccatgtgactcagagaggagggttct c.*1320
. . . . . . g.86667
gggcaggggggccttgccggactgcatgagaggacatgagttttgctttctctgctctaa c.*1380
. . . . . . g.86727
tattttgcttaagccaagaatccttttcttagagatgttctatatgattcctgtcaggat c.*1440
. . . . . . g.86787
tttctagttttttttggattatagcttgttcatttcttttgtttttagtttggtttatat c.*1500
. . . . . . g.86847
ataatgagggaagaagatgattacattatttttgtcactttgccatcattgtttagaagt c.*1560
. . . . . . g.86907
catagaaagaatttttaaataggccaataagtcttaaacttgagtacttggcttagaaga c.*1620
. . . . . . g.86967
aagtcaaaactccttcctttttgactaagtggtttgtttctggggagctcttaatttcta c.*1680
. . . . . . g.87027
tttttataatcattagcctataaggaaattgtgtcttccttgttctcagggtgatctgct c.*1740
. . . . . . g.87087
gaccttgttcactcatgaagcatttgggtatcatacttatagtgtctgaaacataaactg c.*1800
. . . . . . g.87147
tattgagctagacaaggtatagcctcctcttcaagtagcaaatactatcaaaagctataa c.*1860
. . . . . . g.87207
tgcagtaggagcaaggtggtccttgttccagtttttgtctcagttctgctgctgatgtac c.*1920
. . . . . . g.87267
catgatcttgggaaggtggtgtctcagtgtggagatctgacacattgttaccgtgcctcc c.*1980
. . . . . . g.87327
tggctggagggacttggagaacaatgcagttaagtagaatggttttaacaatacagagaa c.*2040
. . . . . . g.87387
atttattcatttagataaaaatctgatttttagaactttaaaagctttgtacagtgtaaa c.*2100
. . . . . . g.87447
tagatttaatgtatttaacatgctttatcagcacaaataaaggattttaaaattttgtca c.*2160
. . . . . . g.87507
aaaaattaaatgttaatactatcaccattaaaaatgttcaagcaatagtctgcctcccca c.*2220
. . . . . . g.87567
cccccacaccatcttgcacctgttccacagctaagtacagccctaggtttggtgtgtatt c.*2280
. . . . . . g.87627
ctccatgcatttagagaatcacatgacacagactgctgctataatgtcattttcccattc c.*2340
. . . g.87657
ttcctttactaataaaatttttgagtttta c.*2370
(downstream sequence)
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