Canonical Allele Identifier: CA1011184650

Gene: PKP1

Linked Data

• dbSNP Id: rs1656818279
• gnomAD v3: 1-201318069-C-CA
• gnomAD v4: 1-201318069-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201318069_201318070insA , CM000663.2:g.201318069_201318070insA	GRCh38
NC_000001.10:g.201287197_201287198insA , CM000663.1:g.201287197_201287198insA	GRCh37
NC_000001.9:g.199553820_199553821insA	NCBI36
NG_023337.1:g.39618_39619insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.1054+290_1054+291insA MANE Select	ENSP00000356293.4:n.1054+290_1054+291insA
ENST00000263946.7:c.1054+290_1054+291insA	ENSP00000263946.3:n.1054+290_1054+291insA
ENST00000352845.3:c.1054+290_1054+291insA	ENSP00000295597.3:n.1054+290_1054+291insA
ENST00000367324.7:c.1054+290_1054+291insA	ENSP00000356293.3:n.1054+290_1054+291insA
ENST00000475988.1:n.396+290_396+291insA
ENST00000622031.4:c.1051+290_1051+291insA	ENSP00000482213.1:n.1051+290_1051+291insA
NM_000299.3:c.1054+290_1054+291insA	NP_000290.2:n.1054+290_1054+291insA
NM_001005337.2:c.1054+290_1054+291insA	NP_001005337.1:n.1054+290_1054+291insA
NM_001005337.3:c.1054+290_1054+291insA MANE Select	NP_001005337.1:n.1054+290_1054+291insA
NM_000299.4:c.1054+290_1054+291insA	NP_000290.2:n.1054+290_1054+291insA