Canonical Allele Identifier: CA2026389108

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850565_32850568delinsCAAA , CM000674.2:g.32850565_32850568delinsCAAA	GRCh38
NC_000012.11:g.33003499_33003502delinsCAAA , CM000674.1:g.33003499_33003502delinsCAAA	GRCh37
NC_000012.10:g.32894766_32894769delinsCAAA	NCBI36
NG_009000.1:g.51279_51282delinsTTTG , LRG_398:g.51279_51282delinsTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1378+198_1378+201delinsTTTG	ENSP00000515065.2:n.1378+198_1378+201delinsTTTG
ENST00000700563.2:c.1378+198_1378+201delinsTTTG	ENSP00000515066.2:n.1378+198_1378+201delinsTTTG
ENST00000700559.1:c.593+198_593+201delinsTTTG
ENST00000700560.1:n.593+198_593+201delinsTTTG
ENST00000700561.1:n.719+198_719+201delinsTTTG
ENST00000700563.1:c.1332+198_1332+201delinsTTTG
ENST00000700564.1:n.1382+198_1382+201delinsTTTG
ENST00000700565.1:n.1231+198_1231+201delinsTTTG
ENST00000070846.11:c.1378+198_1378+201delinsTTTG	ENSP00000070846.6:n.1378+198_1378+201delinsTTTG
ENST00000340811.9:c.1378+198_1378+201delinsTTTG MANE Select	ENSP00000342800.5:n.1378+198_1378+201delinsTTTG
ENST00000070846.10:c.1378+198_1378+201delinsTTTG	ENSP00000070846.6:n.1378+198_1378+201delinsTTTG
ENST00000340811.8:c.1378+198_1378+201delinsTTTG	ENSP00000342800.4:n.1378+198_1378+201delinsTTTG
ENST00000613243.1:c.1378+198_1378+201delinsTTTG	ENSP00000478295.1:n.1378+198_1378+201delinsTTTG
NM_001005242.2:c.1378+198_1378+201delinsTTTG	NP_001005242.2:n.1378+198_1378+201delinsTTTG
NM_004572.3:c.1378+198_1378+201delinsTTTG , LRG_398t1:c.1378+198_1378+201delinsTTTG	NP_004563.2:n.1378+198_1378+201delinsTTTG
NM_001005242.3:c.1378+198_1378+201delinsTTTG MANE Select	NP_001005242.2:n.1378+198_1378+201delinsTTTG
NM_004572.4:c.1378+198_1378+201delinsTTTG	NP_004563.2:n.1378+198_1378+201delinsTTTG