Canonical Allele Identifier: CA1011184301

Gene: PKP1

Linked Data

• dbSNP Id: rs1656786631
• gnomAD v3: 1-201317440-AT-A
• gnomAD v4: 1-201317440-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317444del , CM000663.2:g.201317444del	GRCh38
NC_000001.10:g.201286572del , CM000663.1:g.201286572del	GRCh37
NC_000001.9:g.199553195del	NCBI36
NG_023337.1:g.38993del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.847-128del MANE Select	ENSP00000356293.4:n.847-128del
ENST00000263946.7:c.847-128del	ENSP00000263946.3:n.847-128del
ENST00000352845.3:c.847-128del	ENSP00000295597.3:n.847-128del
ENST00000367324.7:c.847-128del	ENSP00000356293.3:n.847-128del
ENST00000475988.1:n.189-128del
ENST00000622031.4:c.844-128del	ENSP00000482213.1:n.844-128del
NM_000299.3:c.847-128del	NP_000290.2:n.847-128del
NM_001005337.2:c.847-128del	NP_001005337.1:n.847-128del
NM_001005337.3:c.847-128del MANE Select	NP_001005337.1:n.847-128del
NM_000299.4:c.847-128del	NP_000290.2:n.847-128del