Canonical Allele Identifier: CA769468278

Gene: MSH6

Linked Data

• dbSNP Id: rs894333863
• gnomAD v3: 2-47783138-TC-T
• gnomAD v4: 2-47783138-TC-T
• MyVariant Identifiers: chr2:g.48010278del (hg19) ; chr2:g.47783139del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783144del , CM000664.2:g.47783144del	GRCh38
NC_000002.11:g.48010283del , CM000664.1:g.48010283del	GRCh37
NC_000002.10:g.47863787del	NCBI36
NG_007111.1:g.4998del , LRG_219:g.4998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652107.1:c.-37-7783del	ENSP00000498629.1:n.-37-7783del
ENST00000234420.9:c.-90del	ENSP00000234420.4:n.-90del
ENST00000445503.5:c.-90del	ENSP00000405294.1:n.-90del
ENST00000456246.1:c.-90del	ENSP00000410570.1:n.-90del
ENST00000540021.5:c.-90del	ENSP00000446475.1:n.-90del
ENST00000606499.1:c.-37-7783del	ENSP00000475605.1:n.-37-7783del
ENST00000614496.4:c.-826del	ENSP00000477844.1:n.-826del
ENST00000622629.4:c.-3186del	ENSP00000482078.1:n.-3186del
NM_000179.2:c.-90del , LRG_219t1:c.-90del	NP_000170.1:n.-90del
NM_001281492.1:c.-90del	NP_001268421.1:n.-90del
NM_001281493.1:c.-826del	NP_001268422.1:n.-826del