Canonical Allele Identifier: CA2026389101

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850563_32850570delinsCTCAAAAA , CM000674.2:g.32850563_32850570delinsCTCAAAAA	GRCh38
NC_000012.11:g.33003497_33003504delinsCTCAAAAA , CM000674.1:g.33003497_33003504delinsCTCAAAAA	GRCh37
NC_000012.10:g.32894764_32894771delinsCTCAAAAA	NCBI36
NG_009000.1:g.51277_51284delinsTTTTTGAG , LRG_398:g.51277_51284delinsTTTTTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1378+196_1378+203delinsTTTTTGAG	ENSP00000515065.2:n.1378+196_1378+203delinsTTTTTGAG
ENST00000700563.2:c.1378+196_1378+203delinsTTTTTGAG	ENSP00000515066.2:n.1378+196_1378+203delinsTTTTTGAG
ENST00000700559.1:c.593+196_593+203delinsTTTTTGAG
ENST00000700560.1:n.593+196_593+203delinsTTTTTGAG
ENST00000700561.1:n.719+196_719+203delinsTTTTTGAG
ENST00000700563.1:c.1332+196_1332+203delinsTTTTTGAG
ENST00000700564.1:n.1382+196_1382+203delinsTTTTTGAG
ENST00000700565.1:n.1231+196_1231+203delinsTTTTTGAG
ENST00000070846.11:c.1378+196_1378+203delinsTTTTTGAG	ENSP00000070846.6:n.1378+196_1378+203delinsTTTTTGAG
ENST00000340811.9:c.1378+196_1378+203delinsTTTTTGAG MANE Select	ENSP00000342800.5:n.1378+196_1378+203delinsTTTTTGAG
ENST00000070846.10:c.1378+196_1378+203delinsTTTTTGAG	ENSP00000070846.6:n.1378+196_1378+203delinsTTTTTGAG
ENST00000340811.8:c.1378+196_1378+203delinsTTTTTGAG	ENSP00000342800.4:n.1378+196_1378+203delinsTTTTTGAG
ENST00000613243.1:c.1378+196_1378+203delinsTTTTTGAG	ENSP00000478295.1:n.1378+196_1378+203delinsTTTTTGAG
NM_001005242.2:c.1378+196_1378+203delinsTTTTTGAG	NP_001005242.2:n.1378+196_1378+203delinsTTTTTGAG
NM_004572.3:c.1378+196_1378+203delinsTTTTTGAG , LRG_398t1:c.1378+196_1378+203delinsTTTTTGAG	NP_004563.2:n.1378+196_1378+203delinsTTTTTGAG
NM_001005242.3:c.1378+196_1378+203delinsTTTTTGAG MANE Select	NP_001005242.2:n.1378+196_1378+203delinsTTTTTGAG
NM_004572.4:c.1378+196_1378+203delinsTTTTTGAG	NP_004563.2:n.1378+196_1378+203delinsTTTTTGAG