Canonical Allele Identifier: CA177704300

Gene: PENK-AS1

Linked Data

• dbSNP Id: rs994726628
• gnomAD v2: 8-57360382-ATCT-A
• gnomAD v3: 8-56447823-ATCT-A
• gnomAD v4: 8-56447823-ATCT-A
• MyVariant Identifiers: chr8:g.57360383_57360385del (hg19) ; chr8:g.56447824_56447826del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56447827_56447829del , CM000670.2:g.56447827_56447829del	GRCh38
NC_000008.10:g.57360386_57360388del , CM000670.1:g.57360386_57360388del	GRCh37
NC_000008.9:g.57522940_57522942del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_125813.1:n.694+1327_694+1329del