(used for variant description)
(last modified June 9, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_002441.4 in the MSH5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011611.1, covering MSH5 transcript NM_002441.4.
(upstream sequence)
. . . . g.5046
agcggttaggagggcggggcgcgtgcgcgcgcacctcgctcacgcg c.-241
. . . . . . g.5106
ccggcgcgctccttttgcaggctcgtggcggtcggtcagcggggcgttctcccacctgta c.-181
. . . . . . g.5166
gcgactcaggttactgaaaaggcgggaaaacgctgcgatggcggcagctgggggaggagg c.-121
. . . . . . g.5226
aagataagcgcgtgaggctggggtcctggcgcgtggttggcagaggcagagacataagac c.-61
. . . . . | 02 . g.5519
gtgcacgactcgccccacagggccctcagaccccttccttccaaagg | agcctccaagctc c.-1
. . . . . . g.5579
ATGGCCTCCTTAGGAGCGAACCCAAGGAGGACACCGCAGGGACCGAGACCTGGGGCGGCC c.60
M A S L G A N P R R T P Q G P R P G A A p.20
. . . . . . g.5639
TCCTCCGGCTTCCCCAGCCCGGCCCCAGTGCCGGGCCCCAGGGAGGCCGAGGAGGAGGAA c.120
S S G F P S P A P V P G P R E A E E E E p.40
. . | 03. . . . g.6248
GTCGAGGAGGAGGAGGAGCTGGCCGAG | ATCCATCTGTGTGTGCTGTGGAATTCAGGATAC c.180
V E E E E E L A E | I H L C V L W N S G Y p.60
. . . . . . g.6308
TTGGGCATTGCCTACTATGATACTAGTGACTCCACTATCCACTTCATGCCAGATGCCCCA c.240
L G I A Y Y D T S D S T I H F M P D A P p.80
. . . | 04 . . . g.7958
GACCACGAGAGCCTCAAGCTTCTCCAGAGAG | TTCTGGATGAGATCAATCCCCAGTCTGTT c.300
D H E S L K L L Q R V | L D E I N P Q S V p.100
. . . . . | 05 . g.8168
GTTACGAGTGCCAAACAGGATGAGAATATGACTCGATTTCTGGGAAAGCTTG | CCTCCCAG c.360
V T S A K Q D E N M T R F L G K L A | S Q p.120
. . . . . | 06 . g.8961
GAGCACAGAGAGCCTAAAAGACCTGAAATCATATTTTTGCCAAGTGTGGATTTTG | GTCTG c.420
E H R E P K R P E I I F L P S V D F G | L p.140
. . . . . . g.9021
GAGATAAGCAAACAACGCCTCCTTTCTGGAAACTACTCCTTCATCCCAGACGCCATGACT c.480
E I S K Q R L L S G N Y S F I P D A M T p.160
. . . . . | 07. g.9245
GCCACTGAGAAAATCCTCTTCCTCTCTTCCATTATTCCCTTTGACTGCCTCCTCACA | GTT c.540
A T E K I L F L S S I I P F D C L L T | V p.180
. . . . . . g.9305
CGAGCACTTGGAGGGCTGCTGAAGTTCCTGGGTCGAAGAAGAATCGGGGTTGAACTGGAA c.600
R A L G G L L K F L G R R R I G V E L E p.200
. . . . | 08. . g.9611
GACTATAATGTCAGCGTCCCCATCCTGGGCTTTAAGAAATTTATGTT | GACTCATCTGGTG c.660
D Y N V S V P I L G F K K F M L | T H L V p.220
. . | 09 . . . . g.10326
AACATAGATCAAGACACTTACAG | TGTTCTACAGATTTTTAAGAGTGAGTCTCACCCCTCA c.720
N I D Q D T Y S | V L Q I F K S E S H P S p.240
. . . . | 10 . . g.12453
GTGTACAAAGTGGCCAGTGGACTGAAGGAGGGGCTCAGCCTCTTTG | GAATCCTCAACAGA c.780
V Y K V A S G L K E G L S L F G | I L N R p.260
. . . | 11 . . . g.18381
TGCCACTGTAAGTGGGGAGAGAAGCTGCTCAG | GCTATGGTTCACACGTCCGACTCATGAC c.840
C H C K W G E K L L R | L W F T R P T H D p.280
. . . . . . g.18441
CTGGGGGAGCTCAGTTCTCGTCTGGACGTCATTCAGTTTTTTCTGCTGCCCCAGAATCTG c.900
L G E L S S R L D V I Q F F L L P Q N L p.300
. . . . . | 12 . g.18628
GACATGGCTCAGATGCTGCATCGGCTCCTGGGTCACATCAAGAACGTGCCT | CTGATTCTG c.960
D M A Q M L H R L L G H I K N V P | L I L p.320
. . . . . | 13 . g.23223
AAACGCATGAAGTTGTCCCACACCAAGGTCAGCGACTGGCAGGTTCTCTACAAG | ACTGTG c.1020
K R M K L S H T K V S D W Q V L Y K | T V p.340
. . . . . . g.23283
TACAGTGCCCTGGGCCTGAGGGATGCCTGCCGCTCCCTGCCGCAGTCCATCCAGCTCTTT c.1080
Y S A L G L R D A C R S L P Q S I Q L F p.360
. . . . . . g.23343
CGGGACATTGCCCAAGAGTTCTCTGATGACCTGCACCATATCGCCAGCCTCATTGGGAAA c.1140
R D I A Q E F S D D L H H I A S L I G K p.380
| 14 . . . . . . g.23657
GTA | GTGGACTTTGAGGGCAGCCTTGCTGAAAATCGCTTCACAGTCCTCCCCAACATAGAT c.1200
V | V D F E G S L A E N R F T V L P N I D p.400
. | 15 . . . . . g.23862
CCTGAAATTGATGAGA | AAAAGCGAAGACTGATGGGACTTCCCAGTTTCCTTACTGAGGTT c.1260
P E I D E K | K R R L M G L P S F L T E V p.420
. . . . . . g.23922
GCCCGCAAGGAGCTGGAGAATCTGGACTCCCGTATTCCTTCATGCAGTGTCATCTACATC c.1320
A R K E L E N L D S R I P S C S V I Y I p.440
| 16 . . . . . . g.24203
CCTCTG | ATTGGCTTCCTTCTTTCTATTCCCCGCCTGCCTTCCATGGTAGAGGCCAGTGAC c.1380
P L | I G F L L S I P R L P S M V E A S D p.460
. . | 17. . . . g.24510
TTTGAGATTAATGGACTGGACTTCATG | TTTCTCTCAGAGGAGAAGCTGCACTATCGTAGT c.1440
F E I N G L D F M | F L S E E K L H Y R S p.480
. . . . . | 18 . g.24843
GCCCGAACCAAGGAGCTGGATGCATTGCTGGGGGACCTGCACTGCGAGATCCGGG | ACCAG c.1500
A R T K E L D A L L G D L H C E I R D | Q p.500
. . . . . . g.24903
GAGACGCTGCTGATGTACCAGCTACAGTGCCAGGTGCTGGCACGAGCAGCTGTCTTAACC c.1560
E T L L M Y Q L Q C Q V L A R A A V L T p.520
. . . . . . g.24963
CGAGTATTGGACCTTGCCTCCCGCCTGGACGTCCTGCTGGCTCTTGCCAGTGCTGCCCGG c.1620
R V L D L A S R L D V L L A L A S A A R p.540
. . . . . . g.25023
GACTATGGCTACTCAAGGCCGCGTTACTCCCCACAAGTCCTTGGGGTACGAATCCAGAAT c.1680
D Y G Y S R P R Y S P Q V L G V R I Q N p.560
| 19 . . . . . . g.25197
GGCAG | ACATCCTCTGATGGAACTCTGTGCCCGAACCTTTGTGCCCAACTCCACAGAATGT c.1740
G R | H P L M E L C A R T F V P N S T E C p.580
. . . . . . g.25257
GGTGGGGACAAAGGGAGGGTCAAAGTCATCACTGGACCCAACTCATCAGGGAAGAGCATA c.1800
G G D K G R V K V I T G P N S S G K S I p.600
. | 20 . . . . . g.25790
TACCTCAAACAG | GTAGGCTTGATCACATTCATGGCCCTGGTAGGCAGCTTTGTGCCAGCA c.1860
Y L K Q | V G L I T F M A L V G S F V P A p.620
. . . . . . g.25850
GAGGAGGCCGAAATTGGGGCAGTAGACGCCATCTTCACACGAATTCATAGCTGCGAATCC c.1920
E E A E I G A V D A I F T R I H S C E S p.640
. . . . | 21 . . g.26258
ATCTCCCTTGGCCTCTCCACCTTCATGATCGACCTCAACCAG | GTGGCGAAAGCAGTGAAC c.1980
I S L G L S T F M I D L N Q | V A K A V N p.660
. . . . . | 22. g.26527
AATGCCACTGCACAGTCGCTGGTCCTTATTGATGAATTTGGAAAGGGAACCAACACG | GTG c.2040
N A T A Q S L V L I D E F G K G T N T | V p.680
. . . . . . g.26587
GATGGGCTCGCGCTTCTGGCCGCTGTGCTCCGACACTGGCTGGCACGTGGACCCACATGC c.2100
D G L A L L A A V L R H W L A R G P T C p.700
. . . . . . g.26647
CCCCACATCTTTGTGGCCACCAACTTTCTGAGCCTTGTTCAGCTACAACTGCTGCCACAA c.2160
P H I F V A T N F L S L V Q L Q L L P Q p.720
. . | 23 . . . . g.26909
GGGCCCCTGGTGCAGTATTTG | ACCATGGAGACCTGTGAGGATGGCAACGATCTTGTCTTC c.2220
G P L V Q Y L | T M E T C E D G N D L V F p.740
. . . . . . g.26969
TTCTATCAGGTTTGCGAAGGTGTTGCGAAGGCCAGCCATGCCTCCCACACAGCTGCCCAG c.2280
F Y Q V C E G V A K A S H A S H T A A Q p.760
. . . | 24 . . g.27185
GCTGGGCTTCCTGACAAGCTTGTGGCTCGTGGCAAGGAG | GTCTCAGACTTGATCCGCAGT c.2340
A G L P D K L V A R G K E | V S D L I R S p.780
. . . . . | 25 . g.27479
GGAAAACCCATCAAGCCTGTCAAGGATTTGCTAAAGAAGAACCAAATGGAAAA | TTGCCAG c.2400
G K P I K P V K D L L K K N Q M E N | C Q p.800
. . . . . . g.27539
ACATTAGTGGATAAGTTTATGAAACTGGATTTGGAAGATCCTAACCTGGACTTGAACGTT c.2460
T L V D K F M K L D L E D P N L D L N V p.820
. . . . g.27584
TTCATGAGCCAGGAAGTGCTGCCTGCTGCCACCAGCATCCTCTGA c.2505
F M S Q E V L P A A T S I L X p.834
. . . . . . g.27644
gagtccttccagtgtcctccccagcctcctgagactccggtgggctgccatgccctcttt c.*60
. . . . . . g.27704
gtttccttatctccctcagacgcagagtttttagtttctctagaaattttgtttcatatt c.*120
. . g.27731
aggaataaagtttattttgaagaaaga c.*147
(downstream sequence)
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