Canonical Allele Identifier: CA1538218591
Gene: SLC45A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33984438_33984441delinsTAGC , CM000667.2:g.33984438_33984441delinsTAGC GRCh38
NC_000005.9:g.33984543_33984546delinsTAGC , CM000667.1:g.33984543_33984546delinsTAGC GRCh37
NC_000005.8:g.34020300_34020303delinsTAGC NCBI36
NG_011691.2:g.5235_5238delinsGCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.143_146delinsGCTA MANE Select ENSP00000296589.4:p.Cys48=
ENST00000296589.8:c.143_146delinsGCTA ENSP00000296589.4:p.Cys48=
ENST00000382102.7:c.143_146delinsGCTA ENSP00000371534.3:p.Cys48=
ENST00000505056.1:n.122_125delinsGCTA
ENST00000509381.1:c.143_146delinsGCTA ENSP00000421100.1:p.Cys48=
NM_001012509.3:c.143_146delinsGCTA NP_001012527.1:p.Cys48=
NM_001297417.2:c.143_146delinsGCTA NP_001284346.2:p.Cys48=
NM_016180.4:c.143_146delinsGCTA NP_057264.3:p.Cys48=
XM_011514052.1:c.143_146delinsGCTA XP_011512354.1:p.Cys48=
XR_925620.1:n.704_707delinsGCTA
NM_016180.5:c.143_146delinsGCTA MANE Select NP_057264.4:p.Cys48=
NM_001012509.4:c.143_146delinsGCTA NP_001012527.2:p.Cys48=
NM_001297417.3:c.143_146delinsGCTA NP_001284346.2:p.Cys48=
NM_001297417.4:c.143_146delinsGCTA NP_001284346.2:p.Cys48=