Canonical Allele Identifier: CA2026373207

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841058_32841068delinsTCAAAATCGAG , CM000674.2:g.32841058_32841068delinsTCAAAATCGAG	GRCh38
NC_000012.11:g.32993992_32994002delinsTCAAAATCGAG , CM000674.1:g.32993992_32994002delinsTCAAAATCGAG	GRCh37
NC_000012.10:g.32885259_32885269delinsTCAAAATCGAG	NCBI36
NG_009000.1:g.60779_60789delinsCTCGATTTTGA , LRG_398:g.60779_60789delinsCTCGATTTTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1516_1526delinsCTCGATTTTGA	ENSP00000515065.2:p.Leu506=
ENST00000700563.2:c.1516_1526delinsCTCGATTTTGA	ENSP00000515066.2:p.Leu506=
ENST00000700559.1:c.731_741delinsCTCGATTTTGA
ENST00000700560.1:n.731_741delinsCTCGATTTTGA
ENST00000700561.1:n.857_867delinsCTCGATTTTGA
ENST00000700563.1:c.1470_1480delinsCTCGATTTTGA
ENST00000700564.1:n.1520_1530delinsCTCGATTTTGA
ENST00000700565.1:n.1369_1379delinsCTCGATTTTGA
ENST00000070846.11:c.1648_1658delinsCTCGATTTTGA	ENSP00000070846.6:p.Leu550=
ENST00000340811.9:c.1516_1526delinsCTCGATTTTGA MANE Select	ENSP00000342800.5:p.Leu506=
ENST00000070846.10:c.1648_1658delinsCTCGATTTTGA	ENSP00000070846.6:p.Leu550=
ENST00000340811.8:c.1516_1526delinsCTCGATTTTGA	ENSP00000342800.4:p.Leu506=
ENST00000613243.1:c.1648_1658delinsCTCGATTTTGA	ENSP00000478295.1:p.Leu550=
NM_001005242.2:c.1516_1526delinsCTCGATTTTGA	NP_001005242.2:p.Leu506=
NM_004572.3:c.1648_1658delinsCTCGATTTTGA , LRG_398t1:c.1648_1658delinsCTCGATTTTGA	NP_004563.2:p.Leu550=
NM_001005242.3:c.1516_1526delinsCTCGATTTTGA MANE Select	NP_001005242.2:p.Leu506=
NM_004572.4:c.1648_1658delinsCTCGATTTTGA	NP_004563.2:p.Leu550=