Canonical Allele Identifier: CA1538218577
Gene: SLC45A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33984415_33984416delinsTC , CM000667.2:g.33984415_33984416delinsTC GRCh38
NC_000005.9:g.33984520_33984521delinsTC , CM000667.1:g.33984520_33984521delinsTC GRCh37
NC_000005.8:g.34020277_34020278delinsTC NCBI36
NG_011691.2:g.5260_5261delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.168_169delinsGA MANE Select ENSP00000296589.4:p.Val56=
ENST00000296589.8:c.168_169delinsGA ENSP00000296589.4:p.Val56=
ENST00000382102.7:c.168_169delinsGA ENSP00000371534.3:p.Val56=
ENST00000505056.1:n.147_148delinsGA
ENST00000509381.1:c.168_169delinsGA ENSP00000421100.1:p.Val56=
NM_001012509.3:c.168_169delinsGA NP_001012527.1:p.Val56=
NM_001297417.2:c.168_169delinsGA NP_001284346.2:p.Val56=
NM_016180.4:c.168_169delinsGA NP_057264.3:p.Val56=
XM_011514052.1:c.168_169delinsGA XP_011512354.1:p.Val56=
XR_925620.1:n.729_730delinsGA
NM_016180.5:c.168_169delinsGA MANE Select NP_057264.4:p.Val56=
NM_001012509.4:c.168_169delinsGA NP_001012527.2:p.Val56=
NM_001297417.3:c.168_169delinsGA NP_001284346.2:p.Val56=
NM_001297417.4:c.168_169delinsGA NP_001284346.2:p.Val56=