Canonical Allele Identifier: CA2026390042

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32851159_32851160delinsGA , CM000674.2:g.32851159_32851160delinsGA	GRCh38
NC_000012.11:g.33004093_33004094delinsGA , CM000674.1:g.33004093_33004094delinsGA	GRCh37
NC_000012.10:g.32895360_32895361delinsGA	NCBI36
NG_009000.1:g.50687_50688delinsTC , LRG_398:g.50687_50688delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1171-187_1171-186delinsTC	ENSP00000515065.2:n.1171-187_1171-186delinsTC
ENST00000700563.2:c.1171-187_1171-186delinsTC	ENSP00000515066.2:n.1171-187_1171-186delinsTC
ENST00000700559.1:c.386-187_386-186delinsTC
ENST00000700560.1:n.386-187_386-186delinsTC
ENST00000700561.1:n.512-187_512-186delinsTC
ENST00000700563.1:c.1125-187_1125-186delinsTC
ENST00000700564.1:n.1175-187_1175-186delinsTC
ENST00000700565.1:n.1024-187_1024-186delinsTC
ENST00000070846.11:c.1171-187_1171-186delinsTC	ENSP00000070846.6:n.1171-187_1171-186delinsTC
ENST00000340811.9:c.1171-187_1171-186delinsTC MANE Select	ENSP00000342800.5:n.1171-187_1171-186delinsTC
ENST00000070846.10:c.1171-187_1171-186delinsTC	ENSP00000070846.6:n.1171-187_1171-186delinsTC
ENST00000340811.8:c.1171-187_1171-186delinsTC	ENSP00000342800.4:n.1171-187_1171-186delinsTC
ENST00000613243.1:c.1171-187_1171-186delinsTC	ENSP00000478295.1:n.1171-187_1171-186delinsTC
NM_001005242.2:c.1171-187_1171-186delinsTC	NP_001005242.2:n.1171-187_1171-186delinsTC
NM_004572.3:c.1171-187_1171-186delinsTC , LRG_398t1:c.1171-187_1171-186delinsTC	NP_004563.2:n.1171-187_1171-186delinsTC
NM_001005242.3:c.1171-187_1171-186delinsTC MANE Select	NP_001005242.2:n.1171-187_1171-186delinsTC
NM_004572.4:c.1171-187_1171-186delinsTC	NP_004563.2:n.1171-187_1171-186delinsTC