Canonical Allele Identifier: CA2026352264

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878919_32878930delinsCCTTTAGCATGT , CM000674.2:g.32878919_32878930delinsCCTTTAGCATGT	GRCh38
NC_000012.11:g.33031853_33031864delinsCCTTTAGCATGT , CM000674.1:g.33031853_33031864delinsCCTTTAGCATGT	GRCh37
NC_000012.10:g.32923120_32923131delinsCCTTTAGCATGT	NCBI36
NG_009000.1:g.22917_22928delinsACATGCTAAAGG , LRG_398:g.22917_22928delinsACATGCTAAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.326_336+1delinsACATGCTAAAGG
ENST00000700563.2:c.326_336+1delinsACATGCTAAAGG
ENST00000700563.1:c.280_290+1delinsACATGCTAAAGG
ENST00000700564.1:n.330_340+1delinsACATGCTAAAGG
ENST00000700565.1:n.179_189+1delinsACATGCTAAAGG
ENST00000070846.11:c.326_336+1delinsACATGCTAAAGG
ENST00000340811.9:c.326_336+1delinsACATGCTAAAGG
ENST00000070846.10:c.326_336+1delinsACATGCTAAAGG
ENST00000340811.8:c.326_336+1delinsACATGCTAAAGG
ENST00000613243.1:c.326_336+1delinsACATGCTAAAGG
NM_001005242.2:c.326_336+1delinsACATGCTAAAGG
NM_004572.3:c.326_336+1delinsACATGCTAAAGG , LRG_398t1:c.326_336+1delinsACATGCTAAAGG
NM_001005242.3:c.326_336+1delinsACATGCTAAAGG
NM_004572.4:c.326_336+1delinsACATGCTAAAGG