Canonical Allele Identifier: CA532350529

Gene: MSH6

Linked Data

• dbSNP Id: rs1344792196
• gnomAD v2: 2-48010253-CG-C
• gnomAD v3: 2-47783114-CG-C
• gnomAD v4: 2-47783114-CG-C
• MyVariant Identifiers: chr2:g.48010254del (hg19) ; chr2:g.47783115del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783117del , CM000664.2:g.47783117del	GRCh38
NC_000002.11:g.48010256del , CM000664.1:g.48010256del	GRCh37
NC_000002.10:g.47863760del	NCBI36
NG_007111.1:g.4971del , LRG_219:g.4971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652107.1:c.-37-7810del	ENSP00000498629.1:n.-37-7810del
ENST00000234420.9:c.-117del	ENSP00000234420.4:n.-117del
ENST00000445503.5:c.-117del	ENSP00000405294.1:n.-117del
ENST00000540021.5:c.-117del	ENSP00000446475.1:n.-117del
ENST00000606499.1:c.-37-7810del	ENSP00000475605.1:n.-37-7810del
ENST00000614496.4:c.-853del	ENSP00000477844.1:n.-853del
ENST00000622629.4:c.-3213del	ENSP00000482078.1:n.-3213del
NM_000179.2:c.-117del , LRG_219t1:c.-117del	NP_000170.1:n.-117del
NM_001281492.1:c.-117del	NP_001268421.1:n.-117del
NM_001281493.1:c.-853del	NP_001268422.1:n.-853del