Canonical Allele Identifier: CA10602463

Gene: PLEKHM2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15728679_15728680del , CM000663.2:g.15728679_15728680del	GRCh38
NC_000001.10:g.16055174_16055175del , CM000663.1:g.16055174_16055175del	GRCh37
NC_000001.9:g.15927761_15927762del	NCBI36
NG_053033.1:g.52174_52175del

Transcript Alleles

HGVS	Amino-acid Change
NM_015164.4:c.1932_1933del MANE Select	NP_055979.2:p.Lys645AlafsTer12
ENST00000375799.8:c.1932_1933del MANE Select	ENSP00000364956.3:p.Lys645AlafsTer12
NM_015164.2:c.1932_1933del	NP_055979.2:p.Lys645AlafsTer12
NM_015164.3:c.1932_1933del	NP_055979.2:p.Lys645AlafsTer12
ENST00000375793.2:c.1872_1873del	ENSP00000364950.2:p.Lys625AlafsTer12
ENST00000375799.7:c.1932_1933del	ENSP00000364956.3:p.Lys645AlafsTer12
ENST00000642363.1:c.1809_1810del	ENSP00000494591.1:p.Lys604AlafsTer12
XM_005245790.2:c.1872_1873del	XP_005245847.1:p.Lys625AlafsTer12
XM_005245790.4:c.1872_1873del	XP_005245847.1:p.Lys625AlafsTer12
XM_005245791.3:c.1323_1324del	XP_005245848.1:p.Lys442AlafsTer12
XM_005245791.4:c.1323_1324del	XP_005245848.1:p.Lys442AlafsTer12
XM_017000757.1:c.1971_1972del	XP_016856246.1:p.Lys658AlafsTer12
XM_017000758.1:c.1911_1912del	XP_016856247.1:p.Lys638AlafsTer12
XR_946590.1:n.2224_2225del