Canonical Allele Identifier: CA2026374176

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841308_32841309delinsTA , CM000674.2:g.32841308_32841309delinsTA	GRCh38
NC_000012.11:g.32994242_32994243delinsTA , CM000674.1:g.32994242_32994243delinsTA	GRCh37
NC_000012.10:g.32885509_32885510delinsTA	NCBI36
NG_009000.1:g.60538_60539delinsTA , LRG_398:g.60538_60539delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1379-104_1379-103delinsTA	ENSP00000515065.2:n.1379-104_1379-103delinsTA
ENST00000700563.2:c.1379-104_1379-103delinsTA	ENSP00000515066.2:n.1379-104_1379-103delinsTA
ENST00000700559.1:c.594-104_594-103delinsTA
ENST00000700560.1:n.594-104_594-103delinsTA
ENST00000700561.1:n.720-104_720-103delinsTA
ENST00000700563.1:c.1333-104_1333-103delinsTA
ENST00000700564.1:n.1383-104_1383-103delinsTA
ENST00000700565.1:n.1232-104_1232-103delinsTA
ENST00000070846.11:c.1511-104_1511-103delinsTA	ENSP00000070846.6:n.1511-104_1511-103delinsTA
ENST00000340811.9:c.1379-104_1379-103delinsTA MANE Select	ENSP00000342800.5:n.1379-104_1379-103delinsTA
ENST00000070846.10:c.1511-104_1511-103delinsTA	ENSP00000070846.6:n.1511-104_1511-103delinsTA
ENST00000340811.8:c.1379-104_1379-103delinsTA	ENSP00000342800.4:n.1379-104_1379-103delinsTA
ENST00000613243.1:c.1511-104_1511-103delinsTA	ENSP00000478295.1:n.1511-104_1511-103delinsTA
NM_001005242.2:c.1379-104_1379-103delinsTA	NP_001005242.2:n.1379-104_1379-103delinsTA
NM_004572.3:c.1511-104_1511-103delinsTA , LRG_398t1:c.1511-104_1511-103delinsTA	NP_004563.2:n.1511-104_1511-103delinsTA
NM_001005242.3:c.1379-104_1379-103delinsTA MANE Select	NP_001005242.2:n.1379-104_1379-103delinsTA
NM_004572.4:c.1511-104_1511-103delinsTA	NP_004563.2:n.1511-104_1511-103delinsTA