Canonical Allele Identifier: CA2649779881

Gene: PKP1

Linked Data

• gnomAD v4: 1-201317646-GGCAGGGGCCCTGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317650_201317662del , CM000663.2:g.201317650_201317662del	GRCh38
NC_000001.10:g.201286778_201286790del , CM000663.1:g.201286778_201286790del	GRCh37
NC_000001.9:g.199553401_199553413del	NCBI36
NG_023337.1:g.39199_39211del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367324.8:c.925_937del MANE Select	ENSP00000356293.4:p.Gly309ThrfsTer26
ENST00000263946.7:c.925_937del	ENSP00000263946.3:p.Gly309ThrfsTer26
ENST00000352845.3:c.925_937del	ENSP00000295597.3:p.Gly309ThrfsTer26
ENST00000367324.7:c.925_937del	ENSP00000356293.3:p.Gly309ThrfsTer26
ENST00000475988.1:n.267_279del
ENST00000622031.4:c.922_934del	ENSP00000482213.1:p.Gly308ThrfsTer26
NM_000299.3:c.925_937del	NP_000290.2:p.Gly309ThrfsTer26
NM_001005337.2:c.925_937del	NP_001005337.1:p.Gly309ThrfsTer26
NM_001005337.3:c.925_937del MANE Select	NP_001005337.1:p.Gly309ThrfsTer26
NM_000299.4:c.925_937del	NP_000290.2:p.Gly309ThrfsTer26