Canonical Allele Identifier: CA853453024

Gene: PENK-AS1

Linked Data

• dbSNP Id: rs1448164251
• gnomAD v3: 8-56447784-CTT-C
• gnomAD v4: 8-56447784-CTT-C
• MyVariant Identifiers: chr8:g.57360344_57360345del (hg19) ; chr8:g.56447785_56447786del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56447785_56447786del , CM000670.2:g.56447785_56447786del	GRCh38
NC_000008.10:g.57360344_57360345del , CM000670.1:g.57360344_57360345del	GRCh37
NC_000008.9:g.57522898_57522899del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_125813.1:n.694+1285_694+1286del