Canonical Allele Identifier: CA2765835627
Gene: SLC45A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33984461_33984462insAGT , CM000667.2:g.33984461_33984462insAGT GRCh38
NC_000005.9:g.33984566_33984567insAGT , CM000667.1:g.33984566_33984567insAGT GRCh37
NC_000005.8:g.34020323_34020324insAGT NCBI36
NG_011691.2:g.5214_5215insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.122_123insACT MANE Select ENSP00000296589.4:p.Ala41_Met42insLeu
ENST00000296589.8:c.122_123insACT ENSP00000296589.4:p.Ala41_Met42insLeu
ENST00000382102.7:c.122_123insACT ENSP00000371534.3:p.Ala41_Met42insLeu
ENST00000505056.1:n.101_102insACT
ENST00000509381.1:c.122_123insACT ENSP00000421100.1:p.Ala41_Met42insLeu
NM_001012509.3:c.122_123insACT NP_001012527.1:p.Ala41_Met42insLeu
NM_001297417.2:c.122_123insACT NP_001284346.2:p.Ala41_Met42insLeu
NM_016180.4:c.122_123insACT NP_057264.3:p.Ala41_Met42insLeu
XM_011514052.1:c.122_123insACT XP_011512354.1:p.Ala41_Met42insLeu
XR_925620.1:n.683_684insACT
NM_016180.5:c.122_123insACT MANE Select NP_057264.4:p.Ala41_Met42insLeu
NM_001012509.4:c.122_123insACT NP_001012527.2:p.Ala41_Met42insLeu
NM_001297417.3:c.122_123insACT NP_001284346.2:p.Ala41_Met42insLeu
NM_001297417.4:c.122_123insACT NP_001284346.2:p.Ala41_Met42insLeu