Canonical Allele Identifier: CA2554167817
Gene: SLC45A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33963626_33963631del , CM000667.2:g.33963626_33963631del GRCh38
NC_000005.9:g.33963731_33963736del , CM000667.1:g.33963731_33963736del GRCh37
NC_000005.8:g.33999488_33999493del NCBI36
NG_011691.2:g.26047_26052del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.888+62_888+67del MANE Select ENSP00000296589.4:n.888+62_888+67del
ENST00000296589.8:c.888+62_888+67del ENSP00000296589.4:n.888+62_888+67del
ENST00000382102.7:c.888+62_888+67del ENSP00000371534.3:n.888+62_888+67del
ENST00000509381.1:c.563-9125_563-9120del ENSP00000421100.1:n.563-9125_563-9120del
ENST00000510600.1:c.363+62_363+67del ENSP00000424010.1:n.363+62_363+67del
NM_001012509.3:c.888+62_888+67del NP_001012527.1:n.888+62_888+67del
NM_001297417.2:c.563-9125_563-9120del NP_001284346.2:n.563-9125_563-9120del
NM_016180.4:c.888+62_888+67del NP_057264.3:n.888+62_888+67del
XM_011514051.1:c.486+62_486+67del XP_011512353.1:n.486+62_486+67del
XM_011514052.1:c.888+62_888+67del XP_011512354.1:n.888+62_888+67del
XR_925620.1:n.1705+62_1705+67del
NM_016180.5:c.888+62_888+67del MANE Select NP_057264.4:n.888+62_888+67del
NM_001012509.4:c.888+62_888+67del NP_001012527.2:n.888+62_888+67del
NM_001297417.3:c.563-9125_563-9120del NP_001284346.2:n.563-9125_563-9120del
NM_001297417.4:c.563-9125_563-9120del NP_001284346.2:n.563-9125_563-9120del