Canonical Allele Identifier: CA2765834931
Gene: SLC45A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33951877_33951878insAG , CM000667.2:g.33951877_33951878insAG GRCh38
NC_000005.9:g.33951982_33951983insAG , CM000667.1:g.33951982_33951983insAG GRCh37
NC_000005.8:g.33987739_33987740insAG NCBI36
NG_011691.2:g.37798_37799insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1033-201_1033-200insCT MANE Select ENSP00000296589.4:n.1033-201_1033-200insCT
ENST00000296589.8:c.1033-201_1033-200insCT ENSP00000296589.4:n.1033-201_1033-200insCT
ENST00000382102.7:c.1033-201_1033-200insCT ENSP00000371534.3:n.1033-201_1033-200insCT
ENST00000509381.1:c.707-201_707-200insCT ENSP00000421100.1:n.707-201_707-200insCT
ENST00000510600.1:c.508-201_508-200insCT ENSP00000424010.1:n.508-201_508-200insCT
NM_001012509.3:c.1033-201_1033-200insCT NP_001012527.1:n.1033-201_1033-200insCT
NM_001297417.2:c.707-201_707-200insCT NP_001284346.2:n.707-201_707-200insCT
NM_016180.4:c.1033-201_1033-200insCT NP_057264.3:n.1033-201_1033-200insCT
XM_011514051.1:c.631-201_631-200insCT XP_011512353.1:n.631-201_631-200insCT
XR_925620.1:n.1850-201_1850-200insCT
NM_016180.5:c.1033-201_1033-200insCT MANE Select NP_057264.4:n.1033-201_1033-200insCT
NM_001012509.4:c.1033-201_1033-200insCT NP_001012527.2:n.1033-201_1033-200insCT
NM_001297417.3:c.707-201_707-200insCT NP_001284346.2:n.707-201_707-200insCT
NM_001297417.4:c.707-201_707-200insCT NP_001284346.2:n.707-201_707-200insCT