Canonical Allele Identifier: CA2026398758

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32824169_32824176delinsGAAAAAAC , CM000674.2:g.32824169_32824176delinsGAAAAAAC	GRCh38
NC_000012.11:g.32977103_32977110delinsGAAAAAAC , CM000674.1:g.32977103_32977110delinsGAAAAAAC	GRCh37
NC_000012.10:g.32868370_32868377delinsGAAAAAAC	NCBI36
NG_009000.1:g.77671_77678delinsGTTTTTTC , LRG_398:g.77671_77678delinsGTTTTTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.69-14_69-7delinsGTTTTTTC
ENST00000700559.2:c.1557-14_1557-7delinsGTTTTTTC	ENSP00000515065.2:n.1557-14_1557-7delinsGTTTTTTC
ENST00000700563.2:c.1557-14_1557-7delinsGTTTTTTC	ENSP00000515066.2:n.1557-14_1557-7delinsGTTTTTTC
ENST00000546498.2:n.230_237delinsGTTTTTTC
ENST00000700555.1:c.-4-14_-4-7delinsGTTTTTTC	ENSP00000515062.1:n.-4-14_-4-7delinsGTTTTTTC
ENST00000700556.1:c.28-14_28-7delinsGTTTTTTC
ENST00000700559.1:c.772-14_772-7delinsGTTTTTTC
ENST00000700560.1:n.772-14_772-7delinsGTTTTTTC
ENST00000700561.1:n.898-14_898-7delinsGTTTTTTC
ENST00000700563.1:c.1511-14_1511-7delinsGTTTTTTC
ENST00000700564.1:n.1561-14_1561-7delinsGTTTTTTC
ENST00000070846.11:c.1689-14_1689-7delinsGTTTTTTC	ENSP00000070846.6:n.1689-14_1689-7delinsGTTTTTTC
ENST00000340811.9:c.1557-14_1557-7delinsGTTTTTTC MANE Select	ENSP00000342800.5:n.1557-14_1557-7delinsGTTTTTTC
ENST00000070846.10:c.1689-14_1689-7delinsGTTTTTTC	ENSP00000070846.6:n.1689-14_1689-7delinsGTTTTTTC
ENST00000340811.8:c.1557-14_1557-7delinsGTTTTTTC	ENSP00000342800.4:n.1557-14_1557-7delinsGTTTTTTC
ENST00000546498.1:n.230_237delinsGTTTTTTC
ENST00000613243.1:c.1689-14_1689-7delinsGTTTTTTC	ENSP00000478295.1:n.1689-14_1689-7delinsGTTTTTTC
NM_001005242.2:c.1557-14_1557-7delinsGTTTTTTC	NP_001005242.2:n.1557-14_1557-7delinsGTTTTTTC
NM_004572.3:c.1689-14_1689-7delinsGTTTTTTC , LRG_398t1:c.1689-14_1689-7delinsGTTTTTTC	NP_004563.2:n.1689-14_1689-7delinsGTTTTTTC
NM_001005242.3:c.1557-14_1557-7delinsGTTTTTTC MANE Select	NP_001005242.2:n.1557-14_1557-7delinsGTTTTTTC
NM_004572.4:c.1689-14_1689-7delinsGTTTTTTC	NP_004563.2:n.1689-14_1689-7delinsGTTTTTTC