Canonical Allele Identifier: CA729332935

Gene:

Linked Data

• dbSNP Id: rs1386676301
• gnomAD v3: 1-192800766-AT-A
• gnomAD v4: 1-192800766-AT-A
• MyVariant Identifiers: chr1:g.192769897del (hg19) ; chr1:g.192800767del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.192800769del , CM000663.2:g.192800769del	GRCh38
NC_000001.10:g.192769899del , CM000663.1:g.192769899del	GRCh37
NC_000001.9:g.191036522del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429211.2:n.199del