Canonical Allele Identifier: CA1011184282

Gene: PKP1

Linked Data

• dbSNP Id: rs1656785272
• gnomAD v3: 1-201317415-TATC-T
• gnomAD v4: 1-201317415-TATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317418_201317420del , CM000663.2:g.201317418_201317420del	GRCh38
NC_000001.10:g.201286546_201286548del , CM000663.1:g.201286546_201286548del	GRCh37
NC_000001.9:g.199553169_199553171del	NCBI36
NG_023337.1:g.38967_38969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.847-154_847-152del MANE Select	ENSP00000356293.4:n.847-154_847-152del
ENST00000263946.7:c.847-154_847-152del	ENSP00000263946.3:n.847-154_847-152del
ENST00000352845.3:c.847-154_847-152del	ENSP00000295597.3:n.847-154_847-152del
ENST00000367324.7:c.847-154_847-152del	ENSP00000356293.3:n.847-154_847-152del
ENST00000475988.1:n.189-154_189-152del
ENST00000622031.4:c.844-154_844-152del	ENSP00000482213.1:n.844-154_844-152del
NM_000299.3:c.847-154_847-152del	NP_000290.2:n.847-154_847-152del
NM_001005337.2:c.847-154_847-152del	NP_001005337.1:n.847-154_847-152del
NM_001005337.3:c.847-154_847-152del MANE Select	NP_001005337.1:n.847-154_847-152del
NM_000299.4:c.847-154_847-152del	NP_000290.2:n.847-154_847-152del