Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA1114146255

Gene: PENK-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1804703216

gnomAD v3: 8-56448011-GGCTGATTTCTACAGTC-G

gnomAD v4: 8-56448011-GGCTGATTTCTACAGTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56448015_56448030del , CM000670.2:g.56448015_56448030del	GRCh38
NC_000008.10:g.57360574_57360589del , CM000670.1:g.57360574_57360589del	GRCh37
NC_000008.9:g.57523128_57523143del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_125813.1:n.694+1515_694+1530del

Search 100 bp 5'

Search 100 bp 3'