Canonical Allele Identifier: CA253176

Gene: SLC45A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963913_33963915del , CM000667.2:g.33963913_33963915del	GRCh38
NC_000005.9:g.33964018_33964020del , CM000667.1:g.33964018_33964020del	GRCh37
NC_000005.8:g.33999775_33999777del	NCBI36
NG_011691.2:g.25761_25763del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.664_666del MANE Select	ENSP00000296589.4:p.Ser222del
ENST00000296589.8:c.664_666del	ENSP00000296589.4:p.Ser222del
ENST00000382102.7:c.664_666del	ENSP00000371534.3:p.Ser222del
ENST00000505056.1:n.466_468del
ENST00000509381.1:c.563-9411_563-9409del	ENSP00000421100.1:n.563-9411_563-9409del
ENST00000510600.1:c.139_141del	ENSP00000424010.1:p.Ser47del
NM_001012509.3:c.664_666del	NP_001012527.1:p.Ser222del
NM_001297417.2:c.563-9411_563-9409del	NP_001284346.2:n.563-9411_563-9409del
NM_016180.4:c.664_666del	NP_057264.3:p.Ser222del
XM_011514051.1:c.262_264del	XP_011512353.1:p.Ser88del
XM_011514052.1:c.664_666del	XP_011512354.1:p.Ser222del
XR_925620.1:n.1481_1483del
NM_016180.5:c.664_666del MANE Select	NP_057264.4:p.Ser222del
NM_001012509.4:c.664_666del	NP_001012527.2:p.Ser222del
NM_001297417.3:c.563-9411_563-9409del	NP_001284346.2:n.563-9411_563-9409del
NM_001297417.4:c.563-9411_563-9409del	NP_001284346.2:n.563-9411_563-9409del