Canonical Allele Identifier: CA528324930

Gene: PKP1

Linked Data

• dbSNP Id: rs1250185320
• gnomAD v2: 1-201287016-CTG-C
• gnomAD v3: 1-201317888-CTG-C
• gnomAD v4: 1-201317888-CTG-C
• MyVariant Identifiers: chr1:g.201287017_201287018del (hg19) ; chr1:g.201317889_201317890del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317891_201317892del , CM000663.2:g.201317891_201317892del	GRCh38
NC_000001.10:g.201287019_201287020del , CM000663.1:g.201287019_201287020del	GRCh37
NC_000001.9:g.199553642_199553643del	NCBI36
NG_023337.1:g.39440_39441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.1054+112_1054+113del MANE Select	ENSP00000356293.4:n.1054+112_1054+113del
ENST00000263946.7:c.1054+112_1054+113del	ENSP00000263946.3:n.1054+112_1054+113del
ENST00000352845.3:c.1054+112_1054+113del	ENSP00000295597.3:n.1054+112_1054+113del
ENST00000367324.7:c.1054+112_1054+113del	ENSP00000356293.3:n.1054+112_1054+113del
ENST00000475988.1:n.396+112_396+113del
ENST00000622031.4:c.1051+112_1051+113del	ENSP00000482213.1:n.1051+112_1051+113del
NM_000299.3:c.1054+112_1054+113del	NP_000290.2:n.1054+112_1054+113del
NM_001005337.2:c.1054+112_1054+113del	NP_001005337.1:n.1054+112_1054+113del
NM_001005337.3:c.1054+112_1054+113del MANE Select	NP_001005337.1:n.1054+112_1054+113del
NM_000299.4:c.1054+112_1054+113del	NP_000290.2:n.1054+112_1054+113del