Canonical Allele Identifier: CA1030294215

Gene: MSH6

Linked Data

• dbSNP Id: rs1368007633
• gnomAD v3: 2-47782984-C-CGTGCCAGCCCCGCCCCTACCCACCAGT
• gnomAD v4: 2-47782984-C-CGTGCCAGCCCCGCCCCTACCCACCAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783000_47783026dup , CM000664.2:g.47783000_47783026dup	GRCh38
NC_000002.11:g.48010139_48010165dup , CM000664.1:g.48010139_48010165dup	GRCh37
NC_000002.10:g.47863643_47863669dup	NCBI36
NG_007111.1:g.4854_4880dup , LRG_219:g.4854_4880dup

Transcript Alleles

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