(used for variant description)
(last modified June 9, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_002440.3 in the MSH4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029861.1, covering MSH4 transcript NM_002440.3.
(upstream sequence)
. . . . . g.5055
agtgcgtcggcgcgcagttctcccgcccgtttcagcggcgcagcttctgtagttg c.-61
. . . . . . g.5115
ggctactggaggggtcgctcagaaacctcatacttctcgggtcagggaaggtttgggagg c.-1
. . . . . . g.5175
ATGCTGAGGCCTGAGATCTCATCAACCTCGCCTTCTGCCCCGGCGGTTTCCCCGTCGTCG c.60
M L R P E I S S T S P S A P A V S P S S p.20
. . . . . . g.5235
GGAGAAACCCGCTCACCTCAGGGTCCCCGCTACAATTTCGGACTCCAGGAGACTCCACAG c.120
G E T R S P Q G P R Y N F G L Q E T P Q p.40
. . . . . . g.5295
AGCCGCCCTTCGGTCCAGGTGGTCTCTGCATCCACCTGTCCTGGCACGTCAGGAGCTGCG c.180
S R P S V Q V V S A S T C P G T S G A A p.60
. . . . . . g.5355
GGCGACCGGAGCAGCAGCAGCAGCAGCCTTCCCTGCCCCGCGCCAAACTCCCGGCCAGCT c.240
G D R S S S S S S L P C P A P N S R P A p.80
| 02 . . . . . . g.11916
CAAG | GTTCATACTTTGGAAACAAAAGAGCTTATGCAGAAAACACAGTTGCATCAAATTTT c.300
Q G | S Y F G N K R A Y A E N T V A S N F p.100
. . . . . . g.11976
ACTTTTGGTGCAAGCTCATCTTCTGCACGAGATACTAATTATCCTCAAACACTTAAAACT c.360
T F G A S S S S A R D T N Y P Q T L K T p.120
. . . . . . g.12036
CCATTGTCTACTGGAAATCCTCAGAGATCAGGTTATAAGAGCTGGACACCACAAGTGGGA c.420
P L S T G N P Q R S G Y K S W T P Q V G p.140
| 03. . . . . . g.15163
TATTCAG | CTTCATCCTCATCTGCGATTTCTGCACACTCCCCATCAGTTATTGTAGCTGTT c.480
Y S A | S S S S A I S A H S P S V I V A V p.160
. . . . . . g.15223
GTAGAAGGGAGAGGACTTGCCAGAGGTGAAATAGGAATGGCAAGTATTGATTTAAAAAAC c.540
V E G R G L A R G E I G M A S I D L K N p.180
. . . . | 04 . g.18838
CCCCAAATTATACTATCCCAGTTTGCAGACAACACAACATATGCAAAG | GTGATCACTAAA c.600
P Q I I L S Q F A D N T T Y A K | V I T K p.200
. . . . . . g.18898
CTTAAAATTTTATCACCTTTGGAAATAATAATGTCAAATACTGCTTGTGCTGTGGGGAAT c.660
L K I L S P L E I I M S N T A C A V G N p.220
. . . | 05 . . g.23171
TCCACCAAGTTGTTCACTCTGATCACAGAAAATTTCAAG | AATGTTAATTTCACTACTATC c.720
S T K L F T L I T E N F K | N V N F T T I p.240
. . . . . . g.23231
CAAAGGAAATACTTCAATGAAACAAAAGGATTAGAGTACATTGAACAGTTATGCATAGCA c.780
Q R K Y F N E T K G L E Y I E Q L C I A p.260
. . . | 06 . . . g.24527
GAATTCAGCACTGTCCTAATGGAGGTTCAGTCCAA | GTATTACTGCCTTGCAGCTGTTGCA c.840
E F S T V L M E V Q S K | Y Y C L A A V A p.280
. . . . . . g.24587
GCTTTGTTAAAATATGTTGAATTTATTCAAAATTCAGTTTATGCACCAAAATCACTGAAG c.900
A L L K Y V E F I Q N S V Y A P K S L K p.300
. . . . . . g.24647
ATTTGTTTCCAGGGTAGTGAACAGACAGCCATGATAGATTCATCATCAGCCCAAAACCTT c.960
I C F Q G S E Q T A M I D S S S A Q N L p.320
. . | 07 . . . g.30569
GAATTGTTAATTAATAATCAAGACTATAG | GAATAATCACACTCTCTTTGGTGTTCTAAAT c.1020
E L L I N N Q D Y R | N N H T L F G V L N p.340
. . . . . . g.30629
TATACTAAGACTCCTGGAGGGAGTAGACGACTTCGTTCTAATATATTAGAGCCTCTAGTT c.1080
Y T K T P G G S R R L R S N I L E P L V p.360
. . . . . . g.30689
GATATTGAAACCATTAACATGAGATTAGATTGTGTTCAAGAACTACTTCAAGATGAGGAA c.1140
D I E T I N M R L D C V Q E L L Q D E E p.380
. . | 08 . . . . g.56376
CTATTTTTTGGACTTCAATCAG | TTATATCAAGATTTCTTGATACAGAGCAGCTTCTTTCT c.1200
L F F G L Q S V | I S R F L D T E Q L L S p.400
. . . | 09 . . . g.75673
GTTTTAGTCCAAATTCCAAAGCAAGACACG | GTCAATGCTGCTGAATCAAAGATAACAAAT c.1260
V L V Q I P K Q D T | V N A A E S K I T N p.420
. . . . | 10 . . g.85080
TTAATATACTTAAAACATACCTTGGAACTTGTGGATCCTTTAAAG | ATTGCTATGAAGAAC c.1320
L I Y L K H T L E L V D P L K | I A M K N p.440
. . . . . | 11 . g.86288
TGTAACACACCTTTATTAAGAGCTTACTATGGTTCCTTGGAAGACAAGAG | GTTTGGAATC c.1380
C N T P L L R A Y Y G S L E D K R | F G I p.460
. . . . . . g.86348
ATACTTGAAAAGATTAAAACAGTAATTAATGATGATGCAAGATACATGAAAGGATGCCTA c.1440
I L E K I K T V I N D D A R Y M K G C L p.480
. . . . . . g.86408
AACATGAGGACTCAGAAGTGCTATGCAGTGAGGTCTAACATAAATGAATTTCTTGACATA c.1500
N M R T Q K C Y A V R S N I N E F L D I p.500
. . . . | 12 . . g.87141
GCAAGAAGAACATACACAGAGATTGTAGATGACATAGCAG | GAATGATATCACAACTTGGA c.1560
A R R T Y T E I V D D I A G | M I S Q L G p.520
. . . . . . g.87201
GAAAAATATAGTCTACCTTTAAGGACAAGTTTTAGCTCTGCTCGAGGATTTTTCATCCAG c.1620
E K Y S L P L R T S F S S A R G F F I Q p.540
. . . . . | 13. g.88182
ATGACTACAGATTGTATAGCCCTACCTAGTGATCAACTTCCTTCAGAATTTATTAAG | ATT c.1680
M T T D C I A L P S D Q L P S E F I K | I p.560
. . . . . . g.88242
TCTAAAGTGAAAAATTCTTACAGCTTTACATCAGCAGATTTAATTAAAATGAATGAAAGA c.1740
S K V K N S Y S F T S A D L I K M N E R p.580
. . . . | 14 . . g.89394
TGCCAAGAATCTTTGAGAGAAATCTATCACATGACTTATAT | GATAGTGTGCAAACTGCTT c.1800
C Q E S L R E I Y H M T Y M | I V C K L L p.600
. . . . . . g.89454
AGTGAGATTTATGAACATATTCATTGCTTATATAAACTATCTGACACTGTGTCAATGCTG c.1860
S E I Y E H I H C L Y K L S D T V S M L p.620
. . . . | 15 . . g.91764
GATATGCTACTGTCATTTGCTCATGCCTGCACTCTTTCTGACTATG | TTCGACCAGAATTT c.1920
D M L L S F A H A C T L S D Y V | R P E F p.640
. . . . . . g.91824
ACTGATACTTTAGCAATCAAACAGGGATGGCATCCTATTCTTGAAAAAATATCTGCGGAA c.1980
T D T L A I K Q G W H P I L E K I S A E p.660
. . . . . . g.91884
AAACCTATTGCCAACAATACCTATGTTACAGAAGGGAGTAATTTTTTGATCATAACTGGA c.2040
K P I A N N T Y V T E G S N F L I I T G p.680
. . . . . . g.91944
CCAAACATGAGTGGAAAATCCACATATTTAAAACAGATTGCTCTTTGTCAGATTATGGCC c.2100
P N M S G K S T Y L K Q I A L C Q I M A p.700
| 16. . . . . . g.97433
CAGATTG | GATCATATGTTCCAGCAGAATATTCTTCCTTTAGAATTGCTAAACAGATTTTT c.2160
Q I G | S Y V P A E Y S S F R I A K Q I F p.720
. . . . . . g.97493
ACAAGAATTAGTACTGATGATGATATCGAAACAAATTCATCAACATTTATGAAAGAAATG c.2220
T R I S T D D D I E T N S S T F M K E M p.740
| 17 . . . . . . g.98879
AAAGAG | ATAGCATATATTCTACATAATGCTAATGACAAATCGCTCATATTAATTGATGAA c.2280
K E | I A Y I L H N A N D K S L I L I D E p.760
. . . . . . g.98939
CTTGGCAGAGGTACTAATACGGAAGAAGGTATTGGCATTTGTTATGCTGTTTGTGAATAT c.2340
L G R G T N T E E G I G I C Y A V C E Y p.780
. | 18 . . . . . g.106081
CTACTGAGCTTAAAG | GCATTTACACTGTTTGCTACACATTTCCTGGAACTATGCCATATT c.2400
L L S L K | A F T L F A T H F L E L C H I p.800
. . . . . . g.106141
GATGCCCTGTATCCTAATGTAGAAAACATGCATTTTGAAGTTCAACATGTAAAGAATACC c.2460
D A L Y P N V E N M H F E V Q H V K N T p.820
. . . . . . g.106201
TCAAGAAATAAAGAAGCAATTTTGTATACCTACAAACTTTCTAAGGGACTCACAGAAGAG c.2520
S R N K E A I L Y T Y K L S K G L T E E p.840
. | 19 . . . . . g.107797
AAAAATTATG | GATTAAAAGCTGCAGAGGTGTCATCACTTCCACCATCAATTGTCTTGGAT c.2580
K N Y G | L K A A E V S S L P P S I V L D p.860
. . . | 20 . . g.120846
GCCAAGGAAATCACAACTCAAATTACGAGACAAATTTTG | CAAAACCAAAGGAGTACCCCT c.2640
A K E I T T Q I T R Q I L | Q N Q R S T P p.880
. . . . . . g.120906
GAGATGGAAAGACAGAGAGCTGTGTACCATCTAGCCACTAGGCTTGTTCAAACTGCTCGA c.2700
E M E R Q R A V Y H L A T R L V Q T A R p.900
. . . . . . g.120966
AACTCTCAATTGGATCCAGACAGTTTACGAATATATTTAAGTAACCTCAAGAAGAAGTAC c.2760
N S Q L D P D S L R I Y L S N L K K K Y p.920
. . . . . g.121017
AAAGAAGATTTTCCCAGGACTGAACAAGTTCCAGAAAAGACTGAAGAATAA c.2811
K E D F P R T E Q V P E K T E E X p.936
. . . . . . g.121077
tcacaattctaatgtaataatatatcttaattcaaggaacctagaatttatttttctcct c.*60
. . . . . . g.121137
tagagataaggaaaataacatttgccaaatttcatattttaattgaaaattacattatat c.*120
. . . . . . g.121197
taacatcacaattgtcatctatatattctatatgaaaaatatttattataacttaacaaa c.*180
. . . . . . g.121257
tgagaactacttaaaggaatggtttttatgttaggagaaaatacaatacaccactttttt c.*240
. . . . . . g.121317
ctcacaaaaattcacattattaagacctaagttcatttatacttacaagttatagtttaa c.*300
. . . . . g.121368
aatattattgtaaataccctagtttaataaacacctttctttttaggtctg c.*351
(downstream sequence)
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