Canonical Allele Identifier: CA730093489

Gene: PKP1

Linked Data

• dbSNP Id: rs1372538132
• gnomAD v3: 1-201318091-AAG-A
• gnomAD v4: 1-201318091-AAG-A
• MyVariant Identifiers: chr1:g.201287220_201287221del (hg19) ; chr1:g.201318092_201318093del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201318096_201318097del , CM000663.2:g.201318096_201318097del	GRCh38
NC_000001.10:g.201287224_201287225del , CM000663.1:g.201287224_201287225del	GRCh37
NC_000001.9:g.199553847_199553848del	NCBI36
NG_023337.1:g.39645_39646del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.1054+317_1054+318del MANE Select	ENSP00000356293.4:n.1054+317_1054+318del
ENST00000263946.7:c.1054+317_1054+318del	ENSP00000263946.3:n.1054+317_1054+318del
ENST00000352845.3:c.1054+317_1054+318del	ENSP00000295597.3:n.1054+317_1054+318del
ENST00000367324.7:c.1054+317_1054+318del	ENSP00000356293.3:n.1054+317_1054+318del
ENST00000475988.1:n.396+317_396+318del
ENST00000622031.4:c.1051+317_1051+318del	ENSP00000482213.1:n.1051+317_1051+318del
NM_000299.3:c.1054+317_1054+318del	NP_000290.2:n.1054+317_1054+318del
NM_001005337.2:c.1054+317_1054+318del	NP_001005337.1:n.1054+317_1054+318del
NM_001005337.3:c.1054+317_1054+318del MANE Select	NP_001005337.1:n.1054+317_1054+318del
NM_000299.4:c.1054+317_1054+318del	NP_000290.2:n.1054+317_1054+318del