Canonical Allele Identifier: CA2606822363

Gene: PKP1

Linked Data

• gnomAD v3: 1-201317486-G-GAA
• gnomAD v4: 1-201317486-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317495_201317496dup , CM000663.2:g.201317495_201317496dup	GRCh38
NC_000001.10:g.201286623_201286624dup , CM000663.1:g.201286623_201286624dup	GRCh37
NC_000001.9:g.199553246_199553247dup	NCBI36
NG_023337.1:g.39044_39045dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.847-77_847-76dup MANE Select	ENSP00000356293.4:n.847-77_847-76dup
ENST00000263946.7:c.847-77_847-76dup	ENSP00000263946.3:n.847-77_847-76dup
ENST00000352845.3:c.847-77_847-76dup	ENSP00000295597.3:n.847-77_847-76dup
ENST00000367324.7:c.847-77_847-76dup	ENSP00000356293.3:n.847-77_847-76dup
ENST00000475988.1:n.189-77_189-76dup
ENST00000622031.4:c.844-77_844-76dup	ENSP00000482213.1:n.844-77_844-76dup
NM_000299.3:c.847-77_847-76dup	NP_000290.2:n.847-77_847-76dup
NM_001005337.2:c.847-77_847-76dup	NP_001005337.1:n.847-77_847-76dup
NM_001005337.3:c.847-77_847-76dup MANE Select	NP_001005337.1:n.847-77_847-76dup
NM_000299.4:c.847-77_847-76dup	NP_000290.2:n.847-77_847-76dup