Canonical Allele Identifier: CA853453032

Gene: PENK-AS1

Linked Data

• dbSNP Id: rs1227614952
• MyVariant Identifiers: chr8:g.57360395_57360396insCGT (hg19) ; chr8:g.56447836_56447837insCGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56447838_56447840dup , CM000670.2:g.56447838_56447840dup	GRCh38
NC_000008.10:g.57360397_57360399dup , CM000670.1:g.57360397_57360399dup	GRCh37
NC_000008.9:g.57522951_57522953dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_125813.1:n.694+1338_694+1340dup