Canonical Allele Identifier: CA2695204186

Gene: SLC45A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984310_33984315delinsGC , CM000667.2:g.33984310_33984315delinsGC	GRCh38
NC_000005.9:g.33984415_33984420delinsGC , CM000667.1:g.33984415_33984420delinsGC	GRCh37
NC_000005.8:g.34020172_34020177delinsGC	NCBI36
NG_011691.2:g.5361_5366delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.269_274delinsGC MANE Select	ENSP00000296589.4:p.Ser90CysfsTer22
ENST00000296589.8:c.269_274delinsGC	ENSP00000296589.4:p.Ser90CysfsTer22
ENST00000382102.7:c.269_274delinsGC	ENSP00000371534.3:p.Ser90CysfsTer22
ENST00000505056.1:n.248_253delinsGC
ENST00000509381.1:c.269_274delinsGC	ENSP00000421100.1:p.Ser90CysfsTer22
NM_001012509.3:c.269_274delinsGC	NP_001012527.1:p.Ser90CysfsTer22
NM_001297417.2:c.269_274delinsGC	NP_001284346.2:p.Ser90CysfsTer22
NM_016180.4:c.269_274delinsGC	NP_057264.3:p.Ser90CysfsTer22
XM_011514052.1:c.269_274delinsGC	XP_011512354.1:p.Ser90CysfsTer22
XR_925620.1:n.830_835delinsGC
NM_016180.5:c.269_274delinsGC MANE Select	NP_057264.4:p.Ser90CysfsTer22
NM_001012509.4:c.269_274delinsGC	NP_001012527.2:p.Ser90CysfsTer22
NM_001297417.3:c.269_274delinsGC	NP_001284346.2:p.Ser90CysfsTer22
NM_001297417.4:c.269_274delinsGC	NP_001284346.2:p.Ser90CysfsTer22