Canonical Allele Identifier: CA2026389287

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850721_32850722delinsTG , CM000674.2:g.32850721_32850722delinsTG	GRCh38
NC_000012.11:g.33003655_33003656delinsTG , CM000674.1:g.33003655_33003656delinsTG	GRCh37
NC_000012.10:g.32894922_32894923delinsTG	NCBI36
NG_009000.1:g.51125_51126delinsCA , LRG_398:g.51125_51126delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1378+44_1378+45delinsCA	ENSP00000515065.2:n.1378+44_1378+45delinsCA
ENST00000700563.2:c.1378+44_1378+45delinsCA	ENSP00000515066.2:n.1378+44_1378+45delinsCA
ENST00000700559.1:c.593+44_593+45delinsCA
ENST00000700560.1:n.593+44_593+45delinsCA
ENST00000700561.1:n.719+44_719+45delinsCA
ENST00000700563.1:c.1332+44_1332+45delinsCA
ENST00000700564.1:n.1382+44_1382+45delinsCA
ENST00000700565.1:n.1231+44_1231+45delinsCA
ENST00000070846.11:c.1378+44_1378+45delinsCA	ENSP00000070846.6:n.1378+44_1378+45delinsCA
ENST00000340811.9:c.1378+44_1378+45delinsCA MANE Select	ENSP00000342800.5:n.1378+44_1378+45delinsCA
ENST00000070846.10:c.1378+44_1378+45delinsCA	ENSP00000070846.6:n.1378+44_1378+45delinsCA
ENST00000340811.8:c.1378+44_1378+45delinsCA	ENSP00000342800.4:n.1378+44_1378+45delinsCA
ENST00000613243.1:c.1378+44_1378+45delinsCA	ENSP00000478295.1:n.1378+44_1378+45delinsCA
NM_001005242.2:c.1378+44_1378+45delinsCA	NP_001005242.2:n.1378+44_1378+45delinsCA
NM_004572.3:c.1378+44_1378+45delinsCA , LRG_398t1:c.1378+44_1378+45delinsCA	NP_004563.2:n.1378+44_1378+45delinsCA
NM_001005242.3:c.1378+44_1378+45delinsCA MANE Select	NP_001005242.2:n.1378+44_1378+45delinsCA
NM_004572.4:c.1378+44_1378+45delinsCA	NP_004563.2:n.1378+44_1378+45delinsCA