Canonical Allele Identifier: CA1538195647
Gene: SLC45A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33963644_33963645delinsAG , CM000667.2:g.33963644_33963645delinsAG GRCh38
NC_000005.9:g.33963749_33963750delinsAG , CM000667.1:g.33963749_33963750delinsAG GRCh37
NC_000005.8:g.33999506_33999507delinsAG NCBI36
NG_011691.2:g.26031_26032delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.888+46_888+47delinsCT MANE Select ENSP00000296589.4:n.888+46_888+47delinsCT
ENST00000296589.8:c.888+46_888+47delinsCT ENSP00000296589.4:n.888+46_888+47delinsCT
ENST00000382102.7:c.888+46_888+47delinsCT ENSP00000371534.3:n.888+46_888+47delinsCT
ENST00000505056.1:n.736_737delinsCT
ENST00000509381.1:c.563-9141_563-9140delinsCT ENSP00000421100.1:n.563-9141_563-9140delinsCT
ENST00000510600.1:c.363+46_363+47delinsCT ENSP00000424010.1:n.363+46_363+47delinsCT
NM_001012509.3:c.888+46_888+47delinsCT NP_001012527.1:n.888+46_888+47delinsCT
NM_001297417.2:c.563-9141_563-9140delinsCT NP_001284346.2:n.563-9141_563-9140delinsCT
NM_016180.4:c.888+46_888+47delinsCT NP_057264.3:n.888+46_888+47delinsCT
XM_011514051.1:c.486+46_486+47delinsCT XP_011512353.1:n.486+46_486+47delinsCT
XM_011514052.1:c.888+46_888+47delinsCT XP_011512354.1:n.888+46_888+47delinsCT
XR_925620.1:n.1705+46_1705+47delinsCT
NM_016180.5:c.888+46_888+47delinsCT MANE Select NP_057264.4:n.888+46_888+47delinsCT
NM_001012509.4:c.888+46_888+47delinsCT NP_001012527.2:n.888+46_888+47delinsCT
NM_001297417.3:c.563-9141_563-9140delinsCT NP_001284346.2:n.563-9141_563-9140delinsCT
NM_001297417.4:c.563-9141_563-9140delinsCT NP_001284346.2:n.563-9141_563-9140delinsCT