Canonical Allele Identifier: CA532350508

Gene: MSH6

Linked Data

• dbSNP Id: rs1368007633
• gnomAD v2: 2-48010123-CGTGCCAGCCCCGCCCCTACCCACCAGT-C
• gnomAD v3: 2-47782984-CGTGCCAGCCCCGCCCCTACCCACCAGT-C
• gnomAD v4: 2-47782984-CGTGCCAGCCCCGCCCCTACCCACCAGT-C
• MyVariant Identifiers: chr2:g.48010124_48010150del (hg19) ; chr2:g.47782985_47783011del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783000_47783026del , CM000664.2:g.47783000_47783026del	GRCh38
NC_000002.11:g.48010139_48010165del , CM000664.1:g.48010139_48010165del	GRCh37
NC_000002.10:g.47863643_47863669del	NCBI36
NG_007111.1:g.4854_4880del , LRG_219:g.4854_4880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652107.1:c.-37-7927_-37-7901del	ENSP00000498629.1:n.-37-7927_-37-7901del
ENST00000606499.1:c.-37-7927_-37-7901del	ENSP00000475605.1:n.-37-7927_-37-7901del