Canonical Allele Identifier: CA2673477953

Gene: SLC45A2

Linked Data

• gnomAD v4: 5-33984469-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984470del , CM000667.2:g.33984470del	GRCh38
NC_000005.9:g.33984575del , CM000667.1:g.33984575del	GRCh37
NC_000005.8:g.34020332del	NCBI36
NG_011691.2:g.5206del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.114del MANE Select	ENSP00000296589.4:p.His38GlnfsTer19
ENST00000296589.8:c.114del	ENSP00000296589.4:p.His38GlnfsTer19
ENST00000382102.7:c.114del	ENSP00000371534.3:p.His38GlnfsTer19
ENST00000505056.1:n.93del
ENST00000509381.1:c.114del	ENSP00000421100.1:p.His38GlnfsTer19
NM_001012509.3:c.114del	NP_001012527.1:p.His38GlnfsTer19
NM_001297417.2:c.114del	NP_001284346.2:p.His38GlnfsTer19
NM_016180.4:c.114del	NP_057264.3:p.His38GlnfsTer19
XM_011514052.1:c.114del	XP_011512354.1:p.His38GlnfsTer19
XR_925620.1:n.675del
NM_016180.5:c.114del MANE Select	NP_057264.4:p.His38GlnfsTer19
NM_001012509.4:c.114del	NP_001012527.2:p.His38GlnfsTer19
NM_001297417.3:c.114del	NP_001284346.2:p.His38GlnfsTer19
NM_001297417.4:c.114del	NP_001284346.2:p.His38GlnfsTer19