Canonical Allele Identifier: CA443659245

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 2794051
• ClinVar RCV Id: RCV003672605
• MyVariant Identifiers: chr5:g.33951767del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951665del , CM000667.2:g.33951665del	GRCh38
NC_000005.9:g.33951770del , CM000667.1:g.33951770del	GRCh37
NC_000005.8:g.33987527del	NCBI36
NG_011691.2:g.38014del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1048del MANE Select	ENSP00000296589.4:p.Asp350IlefsTer?
ENST00000296589.8:c.1048del	ENSP00000296589.4:p.Asp350IlefsTer?
ENST00000382102.7:c.1048del	ENSP00000371534.3:p.Asp350IlefsTer?
ENST00000509381.1:c.722del	ENSP00000421100.1:p.Gly241AspfsTer?
ENST00000510600.1:c.523del	ENSP00000424010.1:p.Asp175IlefsTer?
NM_001012509.3:c.1048del	NP_001012527.1:p.Asp350IlefsTer?
NM_001297417.2:c.722del	NP_001284346.2:p.Gly241AspfsTer?
NM_016180.4:c.1048del	NP_057264.3:p.Asp350IlefsTer?
XM_011514051.1:c.646del	XP_011512353.1:p.Asp216IlefsTer?
XR_925620.1:n.1865del
NM_016180.5:c.1048del MANE Select	NP_057264.4:p.Asp350IlefsTer?
NM_001012509.4:c.1048del	NP_001012527.2:p.Asp350IlefsTer?
NM_001297417.3:c.722del	NP_001284346.2:p.Gly241AspfsTer?
NM_001297417.4:c.722del	NP_001284346.2:p.Gly241AspfsTer?