Canonical Allele Identifier: CA1011184276

Gene: PKP1

Linked Data

• dbSNP Id: rs1656784711
• gnomAD v3: 1-201317400-CGGGTCTGG-C
• gnomAD v4: 1-201317400-CGGGTCTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317402_201317409del , CM000663.2:g.201317402_201317409del	GRCh38
NC_000001.10:g.201286530_201286537del , CM000663.1:g.201286530_201286537del	GRCh37
NC_000001.9:g.199553153_199553160del	NCBI36
NG_023337.1:g.38951_38958del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.847-170_847-163del MANE Select	ENSP00000356293.4:n.847-170_847-163del
ENST00000263946.7:c.847-170_847-163del	ENSP00000263946.3:n.847-170_847-163del
ENST00000352845.3:c.847-170_847-163del	ENSP00000295597.3:n.847-170_847-163del
ENST00000367324.7:c.847-170_847-163del	ENSP00000356293.3:n.847-170_847-163del
ENST00000475988.1:n.189-170_189-163del
ENST00000622031.4:c.844-170_844-163del	ENSP00000482213.1:n.844-170_844-163del
NM_000299.3:c.847-170_847-163del	NP_000290.2:n.847-170_847-163del
NM_001005337.2:c.847-170_847-163del	NP_001005337.1:n.847-170_847-163del
NM_001005337.3:c.847-170_847-163del MANE Select	NP_001005337.1:n.847-170_847-163del
NM_000299.4:c.847-170_847-163del	NP_000290.2:n.847-170_847-163del