(used for variant description)
(last modified August 22, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000179.2 in the MSH6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007111.1, covering MSH6 transcript NM_000179.2.
(upstream sequence)
. . . g.4967
ggcgaggcgcctgttgattggccactggggcc c.-121
. . . . . . g.5027
cgggttcctccggcggagcgcgcctccccccagatttcccgccagcaggagccgcgcggt c.-61
. . . . . . g.5087
agatgcggtgcttttaggagctccgtccgacagaacggttgggccttgccggctgtcggt c.-1
. . . . . . g.5147
ATGTCGCGACAGAGCACCCTGTACAGCTTCTTCCCCAAGTCTCCGGCGCTGAGTGATGCC c.60
M S R Q S T L Y S F F P K S P A L S D A p.20
. . . . . . g.5207
AACAAGGCCTCGGCCAGGGCCTCACGCGAAGGCGGCCGTGCCGCCGCTGCCCCCGGGGCC c.120
N K A S A R A S R E G G R A A A A P G A p.40
. . . . . . g.5267
TCTCCTTCCCCAGGCGGGGATGCGGCCTGGAGCGAGGCTGGGCCTGGGCCCAGGCCCTTG c.180
S P S P G G D A A W S E A G P G P R P L p.60
. . . . . . g.5327
GCGCGCTCCGCGTCACCGCCCAAGGCGAAGAACCTCAACGGAGGGCTGCGGAGATCGGTA c.240
A R S A S P P K A K N L N G G L R R S V p.80
. . | 02 . . . . g.12820
GCGCCTGCTGCCCCCACCAG | TTGTGACTTCTCACCAGGAGATTTGGTTTGGGCCAAGATG c.300
A P A A P T S | C D F S P G D L V W A K M p.100
. . . . . . g.12880
GAGGGTTACCCCTGGTGGCCTTGTCTGGTTTACAACCACCCCTTTGATGGAACATTCATC c.360
E G Y P W W P C L V Y N H P F D G T F I p.120
. . . . . . g.12940
CGCGAGAAAGGGAAATCAGTCCGTGTTCATGTACAGTTTTTTGATGACAGCCCAACAAGG c.420
R E K G K S V R V H V Q F F D D S P T R p.140
. . . | 03. . . g.17770
GGCTGGGTTAGCAAAAGGCTTTTAAAGCCATATACAG | GTTCAAAATCAAAGGAAGCCCAG c.480
G W V S K R L L K P Y T G | S K S K E A Q p.160
. . . . . . g.17830
AAGGGAGGTCATTTTTACAGTGCAAAGCCTGAAATACTGAGAGCAATGCAACGTGCAGAT c.540
K G G H F Y S A K P E I L R A M Q R A D p.180
. . . . . . g.17890
GAAGCCTTAAATAAAGACAAGATTAAGAGGCTTGAATTGGCAGTTTGTGATGAGCCCTCA c.600
E A L N K D K I K R L E L A V C D E P S p.200
. . | 04. . . . g.20497
GAGCCAGAAGAGGAAGAAGAGATGGAG | GTAGGCACAACTTACGTAACAGATAAGAGTGAA c.660
E P E E E E E M E | V G T T Y V T D K S E p.220
. . . . . . g.20557
GAAGATAATGAAATTGAGAGTGAAGAGGAAGTACAGCCTAAGACACAAGGATCTAGGCGA c.720
E D N E I E S E E E V Q P K T Q G S R R p.240
. . . . . . g.20617
AGTAGCCGCCAAATAAAAAAACGAAGGGTCATATCAGATTCTGAGAGTGACATTGGTGGC c.780
S S R Q I K K R R V I S D S E S D I G G p.260
. . . . . . g.20677
TCTGATGTGGAATTTAAGCCAGACACTAAGGAGGAAGGAAGCAGTGATGAAATAAGCAGT c.840
S D V E F K P D T K E E G S S D E I S S p.280
. . . . . . g.20737
GGAGTGGGGGATAGTGAGAGTGAAGGCCTGAACAGCCCTGTCAAAGTTGCTCGAAAGCGG c.900
G V G D S E S E G L N S P V K V A R K R p.300
. . . . . . g.20797
AAGAGAATGGTGACTGGAAATGGCTCTCTTAAAAGGAAAAGCTCTAGGAAGGAAACGCCC c.960
K R M V T G N G S L K R K S S R K E T P p.320
. . . . . . g.20857
TCAGCCACCAAACAAGCAACTAGCATTTCATCAGAAACCAAGAATACTTTGAGAGCTTTC c.1020
S A T K Q A T S I S S E T K N T L R A F p.340
. . . . . . g.20917
TCTGCCCCTCAAAATTCTGAATCCCAAGCCCACGTTAGTGGAGGTGGTGATGACAGTAGT c.1080
S A P Q N S E S Q A H V S G G G D D S S p.360
. . . . . . g.20977
CGCCCTACTGTTTGGTATCATGAAACTTTAGAATGGCTTAAGGAGGAAAAGAGAAGAGAT c.1140
R P T V W Y H E T L E W L K E E K R R D p.380
. . . . . . g.21037
GAGCACAGGAGGAGGCCTGATCACCCCGATTTTGATGCATCTACACTCTATGTGCCTGAG c.1200
E H R R R P D H P D F D A S T L Y V P E p.400
. . . . . . g.21097
GATTTCCTCAATTCTTGTACTCCTGGGATGAGGAAGTGGTGGCAGATTAAGTCTCAGAAC c.1260
D F L N S C T P G M R K W W Q I K S Q N p.420
. . . . . . g.21157
TTTGATCTTGTCATCTGTTACAAGGTGGGGAAATTTTATGAGCTGTACCACATGGATGCT c.1320
F D L V I C Y K V G K F Y E L Y H M D A p.440
. . . . . . g.21217
CTTATTGGAGTCAGTGAACTGGGGCTGGTATTCATGAAAGGCAACTGGGCCCATTCTGGC c.1380
L I G V S E L G L V F M K G N W A H S G p.460
. . . . . . g.21277
TTTCCTGAAATTGCATTTGGCCGTTATTCAGATTCCCTGGTGCAGAAGGGCTATAAAGTA c.1440
F P E I A F G R Y S D S L V Q K G Y K V p.480
. . . . . . g.21337
GCACGAGTGGAACAGACTGAGACTCCAGAAATGATGGAGGCACGATGTAGAAAGATGGCA c.1500
A R V E Q T E T P E M M E A R C R K M A p.500
. . . . . . g.21397
CATATATCCAAGTATGATAGAGTGGTGAGGAGGGAGATCTGTAGGATCATTACCAAGGGT c.1560
H I S K Y D R V V R R E I C R I I T K G p.520
. . . . . . g.21457
ACACAGACTTACAGTGTGCTGGAAGGTGATCCCTCTGAGAACTACAGTAAGTATCTTCTT c.1620
T Q T Y S V L E G D P S E N Y S K Y L L p.540
. . . . . . g.21517
AGCCTCAAAGAAAAAGAGGAAGATTCTTCTGGCCATACTCGTGCATATGGTGTGTGCTTT c.1680
S L K E K E E D S S G H T R A Y G V C F p.560
. . . . . . g.21577
GTTGATACTTCACTGGGAAAGTTTTTCATAGGTCAGTTTTCAGATGATCGCCATTGTTCG c.1740
V D T S L G K F F I G Q F S D D R H C S p.580
. . . . . . g.21637
AGATTTAGGACTCTAGTGGCACACTATCCCCCAGTACAAGTTTTATTTGAAAAAGGAAAT c.1800
R F R T L V A H Y P P V Q V L F E K G N p.600
. . . . . . g.21697
CTCTCAAAGGAAACTAAAACAATTCTAAAGAGTTCATTGTCCTGTTCTCTTCAGGAAGGT c.1860
L S K E T K T I L K S S L S C S L Q E G p.620
. . . . . . g.21757
CTGATACCCGGCTCCCAGTTTTGGGATGCATCCAAAACTTTGAGAACTCTCCTTGAGGAA c.1920
L I P G S Q F W D A S K T L R T L L E E p.640
. . . . . . g.21817
GAATATTTTAGGGAAAAGCTAAGTGATGGCATTGGGGTGATGTTACCCCAGGTGCTTAAA c.1980
E Y F R E K L S D G I G V M L P Q V L K p.660
. . . . . . g.21877
GGTATGACTTCAGAGTCTGATTCCATTGGGTTGACACCAGGAGAGAAAAGTGAATTGGCC c.2040
G M T S E S D S I G L T P G E K S E L A p.680
. . . . . . g.21937
CTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTT c.2100
L S A L G G C V F Y L K K C L I D Q E L p.700
. . . . . . g.21997
TTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACACAGTCAGCACTACA c.2160
L S M A N F E E Y I P L D S D T V S T T p.720
. . . . . . g.22057
AGATCTGGTGCTATCTTCACCAAAGCCTATCAACGAATGGTGCTAGATGCAGTGACATTA c.2220
R S G A I F T K A Y Q R M V L D A V T L p.740
. . . . . . g.22117
AACAACTTGGAGATTTTTCTGAATGGAACAAATGGTTCTACTGAAGGAACCCTACTAGAG c.2280
N N L E I F L N G T N G S T E G T L L E p.760
. . . . . . g.22177
AGGGTTGATACTTGCCATACTCCTTTTGGTAAGCGGCTCCTAAAGCAATGGCTTTGTGCC c.2340
R V D T C H T P F G K R L L K Q W L C A p.780
. . . . . . g.22237
CCACTCTGTAACCATTATGCTATTAATGATCGTCTAGATGCCATAGAAGACCTCATGGTT c.2400
P L C N H Y A I N D R L D A I E D L M V p.800
. . . . . . g.22297
GTGCCTGACAAAATCTCCGAAGTTGTAGAGCTTCTAAAGAAGCTTCCAGATCTTGAGAGG c.2460
V P D K I S E V V E L L K K L P D L E R p.820
. . . . . . g.22357
CTACTCAGTAAAATTCATAATGTTGGGTCTCCCCTGAAGAGTCAGAACCACCCAGACAGC c.2520
L L S K I H N V G S P L K S Q N H P D S p.840
. . . . . . g.22417
AGGGCTATAATGTATGAAGAAACTACATACAGCAAGAAGAAGATTATTGATTTTCTTTCT c.2580
R A I M Y E E T T Y S K K K I I D F L S p.860
. . . . . . g.22477
GCTCTGGAAGGATTCAAAGTAATGTGTAAAATTATAGGGATCATGGAAGAAGTTGCTGAT c.2640
A L E G F K V M C K I I G I M E E V A D p.880
. . . . . . g.22537
GGTTTTAAGTCTAAAATCCTTAAGCAGGTCATCTCTCTGCAGACAAAAAATCCTGAAGGT c.2700
G F K S K I L K Q V I S L Q T K N P E G p.900
. . . . . . g.22597
CGTTTTCCTGATTTGACTGTAGAATTGAACCGATGGGATACAGCCTTTGACCATGAAAAG c.2760
R F P D L T V E L N R W D T A F D H E K p.920
. . . . . . g.22657
GCTCGAAAGACTGGACTTATTACTCCCAAAGCAGGCTTTGACTCTGATTATGACCAAGCT c.2820
A R K T G L I T P K A G F D S D Y D Q A p.940
. . . . . . g.22717
CTTGCTGACATAAGAGAAAATGAACAGAGCCTCCTGGAATACCTAGAGAAACAGCGCAAC c.2880
L A D I R E N E Q S L L E Y L E K Q R N p.960
. . . . . . g.22777
AGAATTGGCTGTAGGACCATAGTCTATTGGGGGATTGGTAGGAACCGTTACCAGCTGGAA c.2940
R I G C R T I V Y W G I G R N R Y Q L E p.980
. . . . . . g.22837
ATTCCTGAGAATTTCACCACTCGCAATTTGCCAGAAGAATACGAGTTGAAATCTACCAAG c.3000
I P E N F T T R N L P E E Y E L K S T K p.1000
. . . . . . g.22897
AAGGGCTGTAAACGATACTGGACCAAAACTATTGAAAAGAAGTTGGCTAATCTCATAAAT c.3060
K G C K R Y W T K T I E K K L A N L I N p.1020
. . . . . . g.22957
GCTGAAGAACGGAGGGATGTATCATTGAAGGACTGCATGCGGCGACTGTTCTATAACTTT c.3120
A E E R R D V S L K D C M R R L F Y N F p.1040
. . . . . | 05 . g.25281
GATAAAAATTACAAGGACTGGCAGTCTGCTGTAGAGTGTATCGCAGTGTTGG | ATGTTTTA c.3180
D K N Y K D W Q S A V E C I A V L D | V L p.1060
. . . . . . g.25341
CTGTGCCTGGCTAACTATAGTCGAGGGGGTGATGGTCCTATGTGTCGCCCAGTAATTCTG c.3240
L C L A N Y S R G G D G P M C R P V I L p.1080
. . . . . . g.25401
TTGCCGGAAGATACCCCCCCCTTCTTAGAGCTTAAAGGATCACGCCATCCTTGCATTACG c.3300
L P E D T P P F L E L K G S R H P C I T p.1100
. . . . . . g.25461
AAGACTTTTTTTGGAGATGATTTTATTCCTAATGACATTCTAATAGGCTGTGAGGAAGAG c.3360
K T F F G D D F I P N D I L I G C E E E p.1120
. . . . . . g.25521
GAGCAGGAAAATGGCAAAGCCTATTGTGTGCTTGTTACTGGACCAAATATGGGGGGCAAG c.3420
E Q E N G K A Y C V L V T G P N M G G K p.1140
. | 06 . . . . g.26805
TCTACGCTTATGAGACAG | GCTGGCTTATTAGCTGTAATGGCCCAGATGGGTTGTTACGTC c.3480
S T L M R Q | A G L L A V M A Q M G C Y V p.1160
. . . . . . g.26865
CCTGCTGAAGTGTGCAGGCTCACACCAATTGATAGAGTGTTTACTAGACTTGGTGCCTCA c.3540
P A E V C R L T P I D R V F T R L G A S p.1180
. | 07 . . . . . g.27515
GACAGAATAATGTCAG | GTGAAAGTACATTTTTTGTTGAATTAAGTGAAACTGCCAGCATA c.3600
D R I M S G | E S T F F V E L S E T A S I p.1200
. . . . | 08 . . g.28071
CTCATGCATGCAACAGCACATTCTCTGGTGCTTGTGGATGAATTAG | GAAGAGGTACTGCA c.3660
L M H A T A H S L V L V D E L G | R G T A p.1220
. . . . . . g.28131
ACATTTGATGGGACGGCAATAGCAAATGCAGTTGTTAAAGAACTTGCTGAGACTATAAAA c.3720
T F D G T A I A N A V V K E L A E T I K p.1240
. . . . . . g.28191
TGTCGTACATTATTTTCAACTCACTACCATTCATTAGTAGAAGATTATTCTCAAAATGTT c.3780
C R T L F S T H Y H S L V E D Y S Q N V p.1260
. . | 09 . . . . g.28344
GCTGTGCGCCTAGGACATATG | GCATGCATGGTAGAAAATGAATGTGAAGACCCCAGCCAG c.3840
A V R L G H M | A C M V E N E C E D P S Q p.1280
. . . . . . g.28404
GAGACTATTACGTTCCTCTATAAATTCATTAAGGGAGCTTGTCCTAAAAGCTATGGCTTT c.3900
E T I T F L Y K F I K G A C P K S Y G F p.1300
. . . . . . g.28464
AATGCAGCAAGGCTTGCTAATCTCCCAGAGGAAGTTATTCAAAAGGGACATAGAAAAGCA c.3960
N A A R L A N L P E E V I Q K G H R K A p.1320
. . . . | 10 . . g.28651
AGAGAATTTGAGAAGATGAATCAGTCACTACGATTATTTCG | GGAAGTTTGCCTGGCTAGT c.4020
R E F E K M N Q S L R L F R | E V C L A S p.1340
. . . . . . g.28711
GAAAGGTCAACTGTAGATGCTGAAGCTGTCCATAAATTGCTGACTTTGATTAAGGAATTA c.4080
E R S T V D A E A V H K L L T L I K E L p.1360
g.28714
TAG c.4083
X p.1360
. . . . . . g.28774
actgactacattggaagctttgagttgacttctgacaaaggtggtaaattcagacaacat c.*60
. . . g.28807
tatgatctaataaactttattttttaaaaatga c.*93
(downstream sequence)
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