Canonical Allele Identifier: CA1538211713

Gene: SLC45A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951632_33951634delinsACT , CM000667.2:g.33951632_33951634delinsACT	GRCh38
NC_000005.9:g.33951737_33951739delinsACT , CM000667.1:g.33951737_33951739delinsACT	GRCh37
NC_000005.8:g.33987494_33987496delinsACT	NCBI36
NG_011691.2:g.38042_38044delinsAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1076_1078delinsAGT MANE Select	ENSP00000296589.4:p.Glu359=
ENST00000296589.8:c.1076_1078delinsAGT	ENSP00000296589.4:p.Glu359=
ENST00000382102.7:c.1076_1078delinsAGT	ENSP00000371534.3:p.Glu359=
ENST00000509381.1:c.*18_*20delinsAGT	ENSP00000421100.1:n.*18_*20delinsAGT
ENST00000510600.1:c.551_553delinsAGT	ENSP00000424010.1:p.Glu184=
NM_001012509.3:c.1076_1078delinsAGT	NP_001012527.1:p.Glu359=
NM_001297417.2:c.*18_*20delinsAGT	NP_001284346.2:n.*18_*20delinsAGT
NM_016180.4:c.1076_1078delinsAGT	NP_057264.3:p.Glu359=
XM_011514051.1:c.674_676delinsAGT	XP_011512353.1:p.Glu225=
XR_925620.1:n.1893_1895delinsAGT
NM_016180.5:c.1076_1078delinsAGT MANE Select	NP_057264.4:p.Glu359=
NM_001012509.4:c.1076_1078delinsAGT	NP_001012527.2:p.Glu359=
NM_001297417.3:c.*18_*20delinsAGT	NP_001284346.2:n.*18_*20delinsAGT
NM_001297417.4:c.*18_*20delinsAGT	NP_001284346.2:n.*18_*20delinsAGT