Canonical Allele Identifier: CA528081326

Gene:

Linked Data

• dbSNP Id: rs77847085
• gnomAD v2: 1-192769715-G-GAA
• gnomAD v3: 1-192800585-G-GAA
• gnomAD v4: 1-192800585-G-GAA
• MyVariant Identifiers: chr1:g.192769717_192769718insAA (hg19) ; chr1:g.192769715_192769716insAA (hg19) ; chr1:g.192800587_192800588insAA (hg38) ; chr1:g.192800585_192800586insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.192800599_192800600dup , CM000663.2:g.192800599_192800600dup	GRCh38
NC_000001.10:g.192769729_192769730dup , CM000663.1:g.192769729_192769730dup	GRCh37
NC_000001.9:g.191036352_191036353dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429211.2:n.29_30dup