Canonical Allele Identifier: CA1538196360
Gene: SLC45A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33964006_33964007delinsAC , CM000667.2:g.33964006_33964007delinsAC GRCh38
NC_000005.9:g.33964111_33964112delinsAC , CM000667.1:g.33964111_33964112delinsAC GRCh37
NC_000005.8:g.33999868_33999869delinsAC NCBI36
NG_011691.2:g.25669_25670delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000296589.9:c.572_573delinsGT MANE Select ENSP00000296589.4:p.Gly191=
ENST00000296589.8:c.572_573delinsGT ENSP00000296589.4:p.Gly191=
ENST00000382102.7:c.572_573delinsGT ENSP00000371534.3:p.Gly191=
ENST00000505056.1:n.374_375delinsGT
ENST00000509381.1:c.563-9503_563-9502delinsGT ENSP00000421100.1:n.563-9503_563-9502delinsGT
ENST00000510600.1:c.47_48delinsGT ENSP00000424010.1:p.Gly16=
NM_001012509.3:c.572_573delinsGT NP_001012527.1:p.Gly191=
NM_001297417.2:c.563-9503_563-9502delinsGT NP_001284346.2:n.563-9503_563-9502delinsGT
NM_016180.4:c.572_573delinsGT NP_057264.3:p.Gly191=
XM_011514051.1:c.170_171delinsGT XP_011512353.1:p.Gly57=
XM_011514052.1:c.572_573delinsGT XP_011512354.1:p.Gly191=
XR_925620.1:n.1389_1390delinsGT
NM_016180.5:c.572_573delinsGT MANE Select NP_057264.4:p.Gly191=
NM_001012509.4:c.572_573delinsGT NP_001012527.2:p.Gly191=
NM_001297417.3:c.563-9503_563-9502delinsGT NP_001284346.2:n.563-9503_563-9502delinsGT
NM_001297417.4:c.563-9503_563-9502delinsGT NP_001284346.2:n.563-9503_563-9502delinsGT