Canonical Allele Identifier: CA528324888

Gene: PKP1

Linked Data

• dbSNP Id: rs1244470440
• gnomAD v2: 1-201286324-GTTTGTATGCA-G
• gnomAD v3: 1-201317196-GTTTGTATGCA-G
• gnomAD v4: 1-201317196-GTTTGTATGCA-G
• MyVariant Identifiers: chr1:g.201286325_201286334del (hg19) ; chr1:g.201317197_201317206del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317200_201317209del , CM000663.2:g.201317200_201317209del	GRCh38
NC_000001.10:g.201286328_201286337del , CM000663.1:g.201286328_201286337del	GRCh37
NC_000001.9:g.199552951_199552960del	NCBI36
NG_023337.1:g.38749_38758del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.847-372_847-363del MANE Select	ENSP00000356293.4:n.847-372_847-363del
ENST00000263946.7:c.847-372_847-363del	ENSP00000263946.3:n.847-372_847-363del
ENST00000352845.3:c.847-372_847-363del	ENSP00000295597.3:n.847-372_847-363del
ENST00000367324.7:c.847-372_847-363del	ENSP00000356293.3:n.847-372_847-363del
ENST00000475988.1:n.189-372_189-363del
ENST00000622031.4:c.844-372_844-363del	ENSP00000482213.1:n.844-372_844-363del
NM_000299.3:c.847-372_847-363del	NP_000290.2:n.847-372_847-363del
NM_001005337.2:c.847-372_847-363del	NP_001005337.1:n.847-372_847-363del
NM_001005337.3:c.847-372_847-363del MANE Select	NP_001005337.1:n.847-372_847-363del
NM_000299.4:c.847-372_847-363del	NP_000290.2:n.847-372_847-363del