Canonical Allele Identifier: CA2765834900
Gene: SLC45A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33951787_33951788insAGT , CM000667.2:g.33951787_33951788insAGT GRCh38
NC_000005.9:g.33951892_33951893insAGT , CM000667.1:g.33951892_33951893insAGT GRCh37
NC_000005.8:g.33987649_33987650insAGT NCBI36
NG_011691.2:g.37888_37889insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1033-111_1033-110insACT MANE Select ENSP00000296589.4:n.1033-111_1033-110insACT
ENST00000296589.8:c.1033-111_1033-110insACT ENSP00000296589.4:n.1033-111_1033-110insACT
ENST00000382102.7:c.1033-111_1033-110insACT ENSP00000371534.3:n.1033-111_1033-110insACT
ENST00000509381.1:c.707-111_707-110insACT ENSP00000421100.1:n.707-111_707-110insACT
ENST00000510600.1:c.508-111_508-110insACT ENSP00000424010.1:n.508-111_508-110insACT
NM_001012509.3:c.1033-111_1033-110insACT NP_001012527.1:n.1033-111_1033-110insACT
NM_001297417.2:c.707-111_707-110insACT NP_001284346.2:n.707-111_707-110insACT
NM_016180.4:c.1033-111_1033-110insACT NP_057264.3:n.1033-111_1033-110insACT
XM_011514051.1:c.631-111_631-110insACT XP_011512353.1:n.631-111_631-110insACT
XR_925620.1:n.1850-111_1850-110insACT
NM_016180.5:c.1033-111_1033-110insACT MANE Select NP_057264.4:n.1033-111_1033-110insACT
NM_001012509.4:c.1033-111_1033-110insACT NP_001012527.2:n.1033-111_1033-110insACT
NM_001297417.3:c.707-111_707-110insACT NP_001284346.2:n.707-111_707-110insACT
NM_001297417.4:c.707-111_707-110insACT NP_001284346.2:n.707-111_707-110insACT