Canonical Allele Identifier: CA2026389363

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850771_32850775delinsATTTG , CM000674.2:g.32850771_32850775delinsATTTG	GRCh38
NC_000012.11:g.33003705_33003709delinsATTTG , CM000674.1:g.33003705_33003709delinsATTTG	GRCh37
NC_000012.10:g.32894972_32894976delinsATTTG	NCBI36
NG_009000.1:g.51072_51076delinsCAAAT , LRG_398:g.51072_51076delinsCAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1369_1373delinsCAAAT	ENSP00000515065.2:p.Gln457=
ENST00000700563.2:c.1369_1373delinsCAAAT	ENSP00000515066.2:p.Gln457=
ENST00000700559.1:c.584_588delinsCAAAT
ENST00000700560.1:n.584_588delinsCAAAT
ENST00000700561.1:n.710_714delinsCAAAT
ENST00000700563.1:c.1323_1327delinsCAAAT
ENST00000700564.1:n.1373_1377delinsCAAAT
ENST00000700565.1:n.1222_1226delinsCAAAT
ENST00000070846.11:c.1369_1373delinsCAAAT	ENSP00000070846.6:p.Gln457=
ENST00000340811.9:c.1369_1373delinsCAAAT MANE Select	ENSP00000342800.5:p.Gln457=
ENST00000070846.10:c.1369_1373delinsCAAAT	ENSP00000070846.6:p.Gln457=
ENST00000340811.8:c.1369_1373delinsCAAAT	ENSP00000342800.4:p.Gln457=
ENST00000613243.1:c.1369_1373delinsCAAAT	ENSP00000478295.1:p.Gln457=
NM_001005242.2:c.1369_1373delinsCAAAT	NP_001005242.2:p.Gln457=
NM_004572.3:c.1369_1373delinsCAAAT , LRG_398t1:c.1369_1373delinsCAAAT	NP_004563.2:p.Gln457=
NM_001005242.3:c.1369_1373delinsCAAAT MANE Select	NP_001005242.2:p.Gln457=
NM_004572.4:c.1369_1373delinsCAAAT	NP_004563.2:p.Gln457=