Canonical Allele Identifier: CA2026374775

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802681_32802683delinsCAA , CM000674.2:g.32802681_32802683delinsCAA	GRCh38
NC_000012.11:g.32955615_32955617delinsCAA , CM000674.1:g.32955615_32955617delinsCAA	GRCh37
NC_000012.10:g.32846882_32846884delinsCAA	NCBI36
NG_009000.1:g.99164_99166delinsTTG , LRG_398:g.99164_99166delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.517-127_517-125delinsTTG
ENST00000700557.2:n.106-127_106-125delinsTTG
ENST00000700559.2:c.2014-127_2014-125delinsTTG	ENSP00000515065.2:n.2014-127_2014-125delinsTTG
ENST00000546498.2:n.701-127_701-125delinsTTG
ENST00000549461.2:n.553-127_553-125delinsTTG
ENST00000700555.1:c.445-127_445-125delinsTTG	ENSP00000515062.1:n.445-127_445-125delinsTTG
ENST00000700556.1:c.485-127_485-125delinsTTG
ENST00000700557.1:c.25-127_25-125delinsTTG	ENSP00000515064.1:n.25-127_25-125delinsTTG
ENST00000700558.1:n.228-127_228-125delinsTTG
ENST00000700559.1:c.1229-127_1229-125delinsTTG
ENST00000700560.1:n.1229-127_1229-125delinsTTG
ENST00000700561.1:n.1355-127_1355-125delinsTTG
ENST00000070846.11:c.2146-127_2146-125delinsTTG	ENSP00000070846.6:n.2146-127_2146-125delinsTTG
ENST00000340811.9:c.2014-127_2014-125delinsTTG MANE Select	ENSP00000342800.5:n.2014-127_2014-125delinsTTG
ENST00000070846.10:c.2146-127_2146-125delinsTTG	ENSP00000070846.6:n.2146-127_2146-125delinsTTG
ENST00000340811.8:c.2014-127_2014-125delinsTTG	ENSP00000342800.4:n.2014-127_2014-125delinsTTG
ENST00000549461.1:n.460-127_460-125delinsTTG
ENST00000613243.1:c.2146-127_2146-125delinsTTG	ENSP00000478295.1:n.2146-127_2146-125delinsTTG
NM_001005242.2:c.2014-127_2014-125delinsTTG	NP_001005242.2:n.2014-127_2014-125delinsTTG
NM_004572.3:c.2146-127_2146-125delinsTTG , LRG_398t1:c.2146-127_2146-125delinsTTG	NP_004563.2:n.2146-127_2146-125delinsTTG
NM_001005242.3:c.2014-127_2014-125delinsTTG MANE Select	NP_001005242.2:n.2014-127_2014-125delinsTTG
NM_004572.4:c.2146-127_2146-125delinsTTG	NP_004563.2:n.2146-127_2146-125delinsTTG