Canonical Allele Identifier: CA528081323

Gene:

Linked Data

• dbSNP Id: rs1204839266
• gnomAD v2: 1-192769713-AG-A
• gnomAD v3: 1-192800583-AG-A
• gnomAD v4: 1-192800583-AG-A
• MyVariant Identifiers: chr1:g.192769714del (hg19) ; chr1:g.192800584del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.192800585del , CM000663.2:g.192800585del	GRCh38
NC_000001.10:g.192769715del , CM000663.1:g.192769715del	GRCh37
NC_000001.9:g.191036338del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429211.2:n.15del