Canonical Allele Identifier: CA645369290
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 428289
ClinVar RCV Id: RCV000491731

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806830_47806858dup , CM000664.2:g.47806830_47806858dup GRCh38
NC_000002.11:g.48033969_48033997dup , CM000664.1:g.48033969_48033997dup GRCh37
NC_000002.10:g.47887473_47887501dup NCBI36
NG_007111.1:g.28684_28712dup , LRG_219:g.28684_28712dup
NG_008397.1:g.103818_103846dup

Transcript Alleles

HGVS Amino-acid change
ENST00000234420.11:c.4053_4081dup MANE Select ENSP00000234420.5:p.Ter1361LeuextTer4
ENST00000540021.6:c.3663_3691dup ENSP00000446475.1:p.Ter1231LeuextTer4
ENST00000652107.1:c.3756_3784dup ENSP00000498629.1:p.Ter1262LeuextTer4
ENST00000673637.1:c.3756_3784dup ENSP00000501310.1:p.Ter1262LeuextTer4
ENST00000234420.9:c.4053_4081dup ENSP00000234420.4:p.Ter1361LeuextTer4
ENST00000405808.5:c.169+1337_169+1365dup ENSP00000385127.1:p.=
ENST00000434234.5:c.*124+1136_*124+1164dup ENSP00000402692.1:p.=
ENST00000445503.5:c.*3400_*3428dup ENSP00000405294.1:p.=
ENST00000465204.5:n.3052_3080dup
ENST00000538136.1:c.3147_3175dup ENSP00000438580.1:p.Ter1059LeuextTer4
ENST00000540021.5:c.3663_3691dup ENSP00000446475.1:p.Ter1231LeuextTer4
ENST00000614496.4:c.3147_3175dup ENSP00000477844.1:p.Ter1059LeuextTer4
ENST00000622629.4:c.954_982dup ENSP00000482078.1:p.Ter328LeuextTer4
NM_000179.2:c.4053_4081dup , LRG_219t1:c.4053_4081dup NP_000170.1:p.Ter1361LeuextTer4
NM_001281492.1:c.3663_3691dup NP_001268421.1:p.Ter1231LeuextTer4
NM_001281493.1:c.3147_3175dup NP_001268422.1:p.Ter1059LeuextTer4
NM_001281494.1:c.3147_3175dup NP_001268423.1:p.Ter1059LeuextTer4
XM_005264271.1:c.3756_3784dup XP_005264328.1:p.Ter1262LeuextTer4
XM_011532798.1:c.3870_3898dup XP_011531100.1:p.Ter1300LeuextTer4
XM_011532799.1:c.3756_3784dup XP_011531101.1:p.Ter1262LeuextTer4
XM_011532800.1:c.3756_3784dup XP_011531102.1:p.Ter1262LeuextTer4
XM_024452819.1:c.4146_4174dup XP_024308587.1:p.Ter1392LeuextTer4
XM_024452820.1:c.3963_3991dup XP_024308588.1:p.Ter1331LeuextTer4
XM_024452821.1:c.3849_3877dup XP_024308589.1:p.Ter1293LeuextTer4
XM_024452822.1:c.3240_3268dup XP_024308590.1:p.Ter1090LeuextTer4
NM_000179.3:c.4053_4081dup MANE Select NP_000170.1:p.Ter1361LeuextTer4
NM_001281492.2:c.3663_3691dup NP_001268421.1:p.Ter1231LeuextTer4
NM_001281493.2:c.3147_3175dup NP_001268422.1:p.Ter1059LeuextTer4
NM_001281494.2:c.3147_3175dup NP_001268423.1:p.Ter1059LeuextTer4