Canonical Allele Identifier: CA528537235

Gene: PKP1

Linked Data

• gnomAD v2: 1-201286912-GACAACA-G
• gnomAD v3: 1-201317784-GACAACA-G
• gnomAD v4: 1-201317784-GACAACA-G
• MyVariant Identifiers: chr1:g.201286913_201286918del (hg19) ; chr1:g.201317785_201317790del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317785_201317790del , CM000663.2:g.201317785_201317790del	GRCh38
NC_000001.10:g.201286913_201286918del , CM000663.1:g.201286913_201286918del	GRCh37
NC_000001.9:g.199553536_199553541del	NCBI36
NG_023337.1:g.39334_39339del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.1054+6_1054+11del MANE Select	ENSP00000356293.4:n.1054+6_1054+11del
ENST00000263946.7:c.1054+6_1054+11del	ENSP00000263946.3:n.1054+6_1054+11del
ENST00000352845.3:c.1054+6_1054+11del	ENSP00000295597.3:n.1054+6_1054+11del
ENST00000367324.7:c.1054+6_1054+11del	ENSP00000356293.3:n.1054+6_1054+11del
ENST00000475988.1:n.396+6_396+11del
ENST00000622031.4:c.1051+6_1051+11del	ENSP00000482213.1:n.1051+6_1051+11del
NM_000299.3:c.1054+6_1054+11del	NP_000290.2:n.1054+6_1054+11del
NM_001005337.2:c.1054+6_1054+11del	NP_001005337.1:n.1054+6_1054+11del
NM_001005337.3:c.1054+6_1054+11del MANE Select	NP_001005337.1:n.1054+6_1054+11del
NM_000299.4:c.1054+6_1054+11del	NP_000290.2:n.1054+6_1054+11del