Canonical Allele Identifier: CA917448313
Gene: SLC45A2 HGNC NCBI

Linked Data

dbSNP Id: rs869182948

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33963627_33963628del , CM000667.2:g.33963627_33963628del GRCh38
NC_000005.9:g.33963732_33963733del , CM000667.1:g.33963732_33963733del GRCh37
NC_000005.8:g.33999489_33999490del NCBI36
NG_011691.2:g.26053_26054del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.888+68_888+69del MANE Select ENSP00000296589.4:n.888+68_888+69del
ENST00000296589.8:c.888+68_888+69del ENSP00000296589.4:n.888+68_888+69del
ENST00000382102.7:c.888+68_888+69del ENSP00000371534.3:n.888+68_888+69del
ENST00000509381.1:c.563-9119_563-9118del ENSP00000421100.1:n.563-9119_563-9118del
ENST00000510600.1:c.363+68_363+69del ENSP00000424010.1:n.363+68_363+69del
NM_001012509.3:c.888+68_888+69del NP_001012527.1:n.888+68_888+69del
NM_001297417.2:c.563-9119_563-9118del NP_001284346.2:n.563-9119_563-9118del
NM_016180.4:c.888+68_888+69del NP_057264.3:n.888+68_888+69del
XM_011514051.1:c.486+68_486+69del XP_011512353.1:n.486+68_486+69del
XM_011514052.1:c.888+68_888+69del XP_011512354.1:n.888+68_888+69del
XR_925620.1:n.1705+68_1705+69del
NM_016180.5:c.888+68_888+69del MANE Select NP_057264.4:n.888+68_888+69del
NM_001012509.4:c.888+68_888+69del NP_001012527.2:n.888+68_888+69del
NM_001297417.3:c.563-9119_563-9118del NP_001284346.2:n.563-9119_563-9118del
NM_001297417.4:c.563-9119_563-9118del NP_001284346.2:n.563-9119_563-9118del