Canonical Allele Identifier: CA2765834594

Gene: SLC45A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33964014_33964015insCACACCCAACAC , CM000667.2:g.33964014_33964015insCACACCCAACAC	GRCh38
NC_000005.9:g.33964119_33964120insCACACCCAACAC , CM000667.1:g.33964119_33964120insCACACCCAACAC	GRCh37
NC_000005.8:g.33999876_33999877insCACACCCAACAC	NCBI36
NG_011691.2:g.25661_25662insGTGTTGGGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.564_565insGTGTTGGGTGTG MANE Select	ENSP00000296589.4:p.Gly188_Phe189insValLeuGlyVal
ENST00000296589.8:c.564_565insGTGTTGGGTGTG	ENSP00000296589.4:p.Gly188_Phe189insValLeuGlyVal
ENST00000382102.7:c.564_565insGTGTTGGGTGTG	ENSP00000371534.3:p.Gly188_Phe189insValLeuGlyVal
ENST00000505056.1:n.366_367insGTGTTGGGTGTG
ENST00000509381.1:c.563-9511_563-9510insGTGTTGGGTGTG	ENSP00000421100.1:n.563-9511_563-9510insGTGTTGGGTGTG
ENST00000510600.1:c.39_40insGTGTTGGGTGTG	ENSP00000424010.1:p.Gly13_Phe14insValLeuGlyVal
NM_001012509.3:c.564_565insGTGTTGGGTGTG	NP_001012527.1:p.Gly188_Phe189insValLeuGlyVal
NM_001297417.2:c.563-9511_563-9510insGTGTTGGGTGTG	NP_001284346.2:n.563-9511_563-9510insGTGTTGGGTGTG
NM_016180.4:c.564_565insGTGTTGGGTGTG	NP_057264.3:p.Gly188_Phe189insValLeuGlyVal
XM_011514051.1:c.162_163insGTGTTGGGTGTG	XP_011512353.1:p.Gly54_Phe55insValLeuGlyVal
XM_011514052.1:c.564_565insGTGTTGGGTGTG	XP_011512354.1:p.Gly188_Phe189insValLeuGlyVal
XR_925620.1:n.1381_1382insGTGTTGGGTGTG
NM_016180.5:c.564_565insGTGTTGGGTGTG MANE Select	NP_057264.4:p.Gly188_Phe189insValLeuGlyVal
NM_001012509.4:c.564_565insGTGTTGGGTGTG	NP_001012527.2:p.Gly188_Phe189insValLeuGlyVal
NM_001297417.3:c.563-9511_563-9510insGTGTTGGGTGTG	NP_001284346.2:n.563-9511_563-9510insGTGTTGGGTGTG
NM_001297417.4:c.563-9511_563-9510insGTGTTGGGTGTG	NP_001284346.2:n.563-9511_563-9510insGTGTTGGGTGTG