Canonical Allele Identifier: CA2695204188

Gene: SLC45A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984317_33984321del , CM000667.2:g.33984317_33984321del	GRCh38
NC_000005.9:g.33984422_33984426del , CM000667.1:g.33984422_33984426del	GRCh37
NC_000005.8:g.34020179_34020183del	NCBI36
NG_011691.2:g.5359_5363del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.267_271del MANE Select	ENSP00000296589.4:p.Ser90GlnfsTer?
ENST00000296589.8:c.267_271del	ENSP00000296589.4:p.Ser90GlnfsTer?
ENST00000382102.7:c.267_271del	ENSP00000371534.3:p.Ser90GlnfsTer?
ENST00000505056.1:n.246_250del
ENST00000509381.1:c.267_271del	ENSP00000421100.1:p.Ser90GlnfsTer?
NM_001012509.3:c.267_271del	NP_001012527.1:p.Ser90GlnfsTer?
NM_001297417.2:c.267_271del	NP_001284346.2:p.Ser90GlnfsTer?
NM_016180.4:c.267_271del	NP_057264.3:p.Ser90GlnfsTer?
XM_011514052.1:c.267_271del	XP_011512354.1:p.Ser90GlnfsTer?
XR_925620.1:n.828_832del
NM_016180.5:c.267_271del MANE Select	NP_057264.4:p.Ser90GlnfsTer?
NM_001012509.4:c.267_271del	NP_001012527.2:p.Ser90GlnfsTer?
NM_001297417.3:c.267_271del	NP_001284346.2:p.Ser90GlnfsTer?
NM_001297417.4:c.267_271del	NP_001284346.2:p.Ser90GlnfsTer?