(used for variant description)
(last modified September 5, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000390.2 in the CHM gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009874.2, covering CHM transcript NM_000390.2.
(upstream sequence)
. . . g.5030
taatagtcacatgacacgtttcccgtcaag c.-1
. . . . | 02 . g.25016
ATGGCGGATACTCTCCCTTCGGAGTTTGATGTGATCGTAATAGGGACGG | GTTTGCCTGAA c.60
M A D T L P S E F D V I V I G T G | L P E p.20
. . . . . | 03 . g.70757
TCCATCATTGCAGCTGCATGTTCAAGAAGTGGCCGGAGAGTTCTGCATGTTGATTC | AAGA c.120
S I I A A A C S R S G R R V L H V D S | R p.40
. . . . . . g.70817
AGCTACTATGGAGGAAACTGGGCCAGTTTTAGCTTTTCAGGACTATTGTCCTGGCTAAAG c.180
S Y Y G G N W A S F S F S G L L S W L K p.60
| 04 . . . . . g.73722
GAATACCAG | GAAAACAGTGACATTGTAAGTGACAGTCCAGTGTGGCAAGACCAGATCCTT c.240
E Y Q | E N S D I V S D S P V W Q D Q I L p.80
. . . . . . g.73782
GAAAATGAAGAAGCCATTGCTCTTAGCAGGAAGGACAAAACTATTCAACATGTGGAAGTA c.300
E N E E A I A L S R K D K T I Q H V E V p.100
. | 05 . . . . . g.88555
TTTTGTTATGCCAG | TCAGGATTTGCATGAAGATGTCGAAGAAGCTGGTGCACTGCAGAAA c.360
F C Y A S | Q D L H E D V E E A G A L Q K p.120
. . . . . . g.88615
AATCATGCTCTTGTGACATCTGCAAACTCCACAGAAGCTGCAGATTCTGCCTTCCTGCCT c.420
N H A L V T S A N S T E A A D S A F L P p.140
. . . . . . g.88675
ACGGAGGATGAGTCATTAAGCACTATGAGCTGTGAAATGCTCACAGAACAAACTCCAAGC c.480
T E D E S L S T M S C E M L T E Q T P S p.160
. . . . . . g.88735
AGCGATCCAGAGAATGCGCTAGAAGTAAATGGTGCTGAAGTGACAGGGGAAAAAGAAAAC c.540
S D P E N A L E V N G A E V T G E K E N p.180
. . . . . . g.88795
CATTGTGATGATAAAACTTGTGTGCCATCAACTTCAGCAGAAGACATGAGTGAAAATGTG c.600
H C D D K T C V P S T S A E D M S E N V p.200
. . . . . . g.88855
CCTATAGCAGAAGATACCACAGAGCAACCAAAGAAAAACAGAATTACTTACTCACAAATT c.660
P I A E D T T E Q P K K N R I T Y S Q I p.220
. . . . | 06 . . g.93602
ATTAAAGAAGGCAGGAGATTTAATATTGATTTAGTATCAAAG | CTGCTGTATTCTCGAGGA c.720
I K E G R R F N I D L V S K | L L Y S R G p.240
. . . . . . g.93662
TTACTAATTGATCTTCTAATCAAATCTAATGTTAGTCGATATGCAGAGTTTAAAAATATT c.780
L L I D L L I K S N V S R Y A E F K N I p.260
. . . | 07 . . g.94607
ACCAGGATTCTTGCATTTCGAGAAGGACGAGTGGAACAG | GTTCCGTGTTCCAGAGCAGAT c.840
T R I L A F R E G R V E Q | V P C S R A D p.280
. . . . . . g.94667
GTCTTTAATAGCAAACAACTTACTATGGTAGAAAAGCGAATGCTAATGAAATTTCTTACA c.900
V F N S K Q L T M V E K R M L M K F L T p.300
. . . . | 08 . . g.96203
TTTTGTATGGAATATGAGAAATATCCTGATGAATATAAAG | GATATGAAGAGATCACATTT c.960
F C M E Y E K Y P D E Y K G | Y E E I T F p.320
. . . . . . g.96263
TATGAATATTTAAAGACTCAAAAATTAACCCCCAACCTCCAATATATTGTCATGCATTCA c.1020
Y E Y L K T Q K L T P N L Q Y I V M H S p.340
. . . . . . g.96323
ATTGCAATGACATCAGAGACAGCCAGCAGCACCATAGATGGTCTCAAAGCTACCAAAAAC c.1080
I A M T S E T A S S T I D G L K A T K N p.360
. . . . . . g.96383
TTTCTTCACTGTCTTGGGCGGTATGGCAACACTCCATTTTTGTTTCCTTTATATGGCCAA c.1140
F L H C L G R Y G N T P F L F P L Y G Q p.380
. . | 09 . . . . g.141257
GGAGAACTCCCCCAGTGTTTCTGCAG | GATGTGTGCTGTGTTTGGTGGAATTTATTGTCTT c.1200
G E L P Q C F C R | M C A V F G G I Y C L p.400
. . . . | 10 . . g.151389
CGCCATTCAGTACAGTGCCTTGTAGTGGACAAAGAATCCAGAAA | ATGTAAAGCAATTATA c.1260
R H S V Q C L V V D K E S R K | C K A I I p.420
. . . . . . g.151449
GATCAGTTTGGTCAGAGAATAATCTCTGAGCATTTCCTCGTGGAGGACAGTTACTTTCCT c.1320
D Q F G Q R I I S E H F L V E D S Y F P p.440
. . | 11 . . . g.151883
GAGAACATGTGCTCACGTGTGCAATACAG | GCAGATCTCCAGGGCAGTGCTGATTACAGAT c.1380
E N M C S R V Q Y R | Q I S R A V L I T D p.460
. . . | 12 . . . g.158304
AGATCTGTCCTAAAAACAGATTCAGATCAACAG | ATTTCCATTTTGACAGTGCCAGCAGAG c.1440
R S V L K T D S D Q Q | I S I L T V P A E p.480
. . . . . . g.158364
GAACCAGGAACTTTTGCTGTTCGGGTCATTGAGTTATGTTCTTCAACGATGACATGCATG c.1500
E P G T F A V R V I E L C S S T M T C M p.500
. | 13 . . . . . g.173548
AAAGGCACCT | ATTTGGTTCATTTGACTTGCACATCTTCTAAAACAGCAAGAGAAGATTTA c.1560
K G T Y | L V H L T C T S S K T A R E D L p.520
. . . . | 14 . g.179360
GAATCAGTTGTGCAGAAATTGTTTGTTCCATATACTGAAATGGAGATAG | AAAATGAACAA c.1620
E S V V Q K L F V P Y T E M E I E | N E Q p.540
. . . . . . g.179420
GTAGAAAAGCCAAGAATTCTGTGGGCTCTTTACTTCAATATGAGAGATTCGTCAGACATC c.1680
V E K P R I L W A L Y F N M R D S S D I p.560
. . . . . . g.179480
AGCAGGAGCTGTTATAATGATTTACCATCCAACGTTTATGTCTGCTCTGGCCCAGATTGT c.1740
S R S C Y N D L P S N V Y V C S G P D C p.580
. . . | 15 . . . g.187770
GGTTTAGGAAATGATAATGCAGTCAAACAG | GCTGAAACACTTTTCCAGGAAATCTGCCCC c.1800
G L G N D N A V K Q | A E T L F Q E I C P p.600
. . . . . . g.187830
AATGAAGATTTCTGTCCCCCTCCACCAAATCCTGAAGACATTATCCTTGATGGAGACAGT c.1860
N E D F C P P P P N P E D I I L D G D S p.620
. . . . . . g.187890
TTACAGCCAGAGGCTTCAGAATCCAGTGCCATACCAGAGGCTAACTCGGAGACTTTCAAG c.1920
L Q P E A S E S S A I P E A N S E T F K p.640
. . . . g.187932
GAAAGCACAAACCTTGGAAACCTAGAGGAGTCCTCTGAATAA c.1962
E S T N L G N L E E S S E X p.653
. . . . . . g.187992
tggatatacaccaaactggatacccaactttggaaattctgactggtctcagagtctact c.*60
. . . . . . g.188052
tgatagaaggactgtttgagaaatgttagaaagcagcagcaattataaggcaaaataggt c.*120
. . . . . . g.188112
aatagaaatccaaaaggggattttccttatagaggacattccaagaacacacaacactta c.*180
. . . . . . g.188172
taaagcacattgacttgctcattttaaataccaaacttgtgtgactagcagatgaaaatt c.*240
. . . . . . g.188232
ataaatcaattgattctcaggaatgtaactgtggatatgaaagtgatcctatgcattgtt c.*300
. . . . . . g.188292
aataattccatggtcttaggacaattttgcttaccactttggatctttgtttgaaagcca c.*360
. . . . . . g.188352
cattttcagaaccagctcatgtattttctttggttatttgaattttattttctttatgga c.*420
. . . . . . g.188412
caagagcatcataacataatgataaaaacatatagaaaaactaaagtatcatgatctaga c.*480
. . . . . . g.188472
tagaagcctgtatttggaatacaggtttgttttgctttctatgttgagaagcattgaaaa c.*540
. . . . . . g.188532
tgctaatataaaggtgtttagacatttttacgaataagtcagtagtgttttttagtatca c.*600
. . . . . . g.188592
gtagtgatatttgtttgtaaattatttacatattgggaaaggtcaataatgaagaaatga c.*660
. . . . . . g.188652
aagaatggaaggaaaggtgtggataggctcattggtatttgaatattctgtctgtcaagt c.*720
. . . . . . g.188712
aactagagtattaggctaattgtctacagacctaatttaatcctggctgtcctactgatg c.*780
. . . . . . g.188772
atatttggtaaattgtttaacttctgagcctacgtttctccatatataaagtggaaatag c.*840
. . . . . . g.188832
tattactatgcctactatatgagaatggttatgaagacaatgcaatgccatgtttagaat c.*900
. . . . . . g.188892
cggtttgccagaagaaaattgttttagaattttcccattgacttgatgaatctcaaaagt c.*960
. . . . . . g.188952
ctcacgcaggaaataattgcttgctgtcagtcaacttccaaacaaaatagatcacagtgt c.*1020
. . . . . . g.189012
ttttattgcattaagctttttaaatgaaaatttcttttttaaagtagtattttatagtct c.*1080
. . . . . . g.189072
tacagaccagtaaaaatagtaacaagtagaattgtggttttgaaatattactaaggaaaa c.*1140
. . . . . . g.189132
cactctataaattgttttattccttttctggtaggtaaacctgcaaccaccaaggactcc c.*1200
. . . . . . g.189192
aaattgtgtatgacagttggtaagccctaatatacactacataaaaacgttagggctgcc c.*1260
. . . . . . g.189252
tgtaatcccagcactttgggaagctgaggtgggtagatcacttgaggtcaggagttcgag c.*1320
. . . . . . g.189312
accagcctggccaacatggcgaaaccctgtctctactaaaaatacaaaattttagctggg c.*1380
. . . . . . g.189372
tgttatggtgggcacctgtaatcccagctactttgaagatgaggtagcagactcacttga c.*1440
. . . . . . g.189432
accagggaggcggaggttgcagtgagccaagattttgccactgcactccagcctgggtga c.*1500
. . . . . . g.189492
cagagcaagactctgtctcacaaaaaaaaaaaaagggggctgtacataggcagcaaacta c.*1560
. . . . . . g.189552
agctgcagtgatgttgcctatatttaaattttctcaaatggccaagctctgatggtctac c.*1620
. . . . . . g.189612
tttatttgagcaatagttgagacttataattgcctataaataaacaaacaaatgaactat c.*1680
. . . . . . g.189672
ttgtttttttttctcacaacatctggcctatattgtctgtcaggaagccatggctccaat c.*1740
. . . . . . g.189732
gtaaagtacatagttcttacatacttcaactgcagctggtccctgacctcaccaggtttc c.*1800
. . . . . . g.189792
agagatgttcttaaaggaagccagctgtggcaggtcacagattcatgggaaatggaaaga c.*1860
. . . . . . g.189852
accaaggaatatagctcttgcctcacctttctacccactgcagatatagttcaagccaga c.*1920
. . . . . . g.189912
gtaatggaagaacttaacttactagcctctcaggctgctcctatccctacctcccagtgt c.*1980
. . . . . . g.189972
acagcccctccccatctctttagtcccctttccctcacttccccttttataatgtcacac c.*2040
. . . . . . g.190032
aaatcagggacagtaggatcacattataacctactttgtcatagggattcgatttttctt c.*2100
. . . . . . g.190092
atatcaaatcatgtttcctgaaacccagctggggcatatgcactcaatgtctaatacata c.*2160
. . . . . . g.190152
cttattaatgtaccggatattggccttgcccctggatatcagcaatatattataaaaggt c.*2220
. . . . . . g.190212
tccagtagatgagacgattgagtctgaatacaattgcagtaaattgtgccaataaagata c.*2280
. . . . . . g.190272
ttgtactgttacggtcttagagttaaagccgcttgaatgcagcatgcacattcatgtaaa c.*2340
. . . . . . g.190332
cagacaatcagggtaggcctagaataaccacaaaaattctattggccttactgcagccac c.*2400
. . . . . . g.190392
ctatatgtagaacaatggaggagatagtttgtggtccattattgtaccctgtttcatcca c.*2460
. . . . . . g.190452
ttagcatcagaatctctctttcaggtcatttattaaatatgattgaaatgtttaaaagtt c.*2520
. . . . . . g.190512
cctgaacatgattcatgatgattaaaatatcatacaactgataaaagactttaagaactt c.*2580
. . . . . . g.190572
tatatatttcctgttgcctcaaaatgtaacagaaattattcttagagctttgattttagc c.*2640
. . . . . . g.190632
tatcctaattactgcaaataaatatttgttcttatagttttaaatcaaaaagaaaagtct c.*2700
. . . . . . g.190692
tgttataaaaccttaagcttgaaatcatattaataaaatatattgtacatagtggaaaat c.*2760
. . . . . . g.190752
tttcagtagctaatttaaaatttcagaaaatgctattaaagaattttgattcaagtattt c.*2820
. . . . . . g.190812
aaactgtttagttatgcatgcttcttattaaccgaaaatgataataccatttagtttagt c.*2880
. . . . . . g.190872
gatcagtatgagaagcaatacctaatcctatgttgctattgtattttttcctagttggtg c.*2940
. . . . . . g.190932
tgcctgctcagaaaaacatatactgtatgtgtatacatacctgtgtatatataaaaggtc c.*3000
. . . . . . g.190992
aatttatatatttttctataggaaaatggagtaacaagttccctatctcccatatttatt c.*3060
. . . . . . g.191052
tgtccatagtaaaatggccacattgatgataatttctagaactagtttctgagattgtca c.*3120
. . . . . . g.191112
gccctttgtctaaaataatggcagtattaatgattgacttctgtcactgccatagttacc c.*3180
. . . . . . g.191172
tggattgtcagccttggtagcctttgtctaaagtcctaaagagttccaaaaaaaatgtgt c.*3240
. . . . . . g.191232
tgaaatttaattgctaaatagtggttggtgattctttacagtaggaattgtaataatttt c.*3300
. . . . . . g.191292
cttgcaaataagttatttactgctattgatattgaataatttgtcttttattcagatata c.*3360
. . . . . . g.191352
tttcaaaaagcatgaatatatgattattcataaattgtatactttaccagtaagttttca c.*3420
. . . g.191382
gaggaaataaagacttttaaatccttttca c.*3450
(downstream sequence)
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