Canonical Allele Identifier: CA823187280
Gene: GMDS-DT HGNC NCBI

Linked Data

dbSNP Id: rs1439392543
gnomAD v3: 6-2355667-G-GT
gnomAD v4: 6-2355667-G-GT

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355669dup , CM000668.2:g.2355669dup GRCh38
NC_000006.11:g.2355903dup , CM000668.1:g.2355903dup GRCh37
NC_000006.10:g.2300902dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+26337dup