Canonical Allele Identifier: CA2673477954

Gene: SLC45A2

Linked Data

• gnomAD v4: 5-33984494-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984495del , CM000667.2:g.33984495del	GRCh38
NC_000005.9:g.33984600del , CM000667.1:g.33984600del	GRCh37
NC_000005.8:g.34020357del	NCBI36
NG_011691.2:g.5181del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.89del MANE Select	ENSP00000296589.4:p.Arg30AsnfsTer27
ENST00000296589.8:c.89del	ENSP00000296589.4:p.Arg30AsnfsTer27
ENST00000382102.7:c.89del	ENSP00000371534.3:p.Arg30AsnfsTer27
ENST00000505056.1:n.68del
ENST00000509381.1:c.89del	ENSP00000421100.1:p.Arg30AsnfsTer27
NM_001012509.3:c.89del	NP_001012527.1:p.Arg30AsnfsTer27
NM_001297417.2:c.89del	NP_001284346.2:p.Arg30AsnfsTer27
NM_016180.4:c.89del	NP_057264.3:p.Arg30AsnfsTer27
XM_011514052.1:c.89del	XP_011512354.1:p.Arg30AsnfsTer27
XR_925620.1:n.650del
NM_016180.5:c.89del MANE Select	NP_057264.4:p.Arg30AsnfsTer27
NM_001012509.4:c.89del	NP_001012527.2:p.Arg30AsnfsTer27
NM_001297417.3:c.89del	NP_001284346.2:p.Arg30AsnfsTer27
NM_001297417.4:c.89del	NP_001284346.2:p.Arg30AsnfsTer27