Canonical Allele Identifier: CA2695204176

Gene: SLC45A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963842del , CM000667.2:g.33963842del	GRCh38
NC_000005.9:g.33963947del , CM000667.1:g.33963947del	GRCh37
NC_000005.8:g.33999704del	NCBI36
NG_011691.2:g.25834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.737del MANE Select	ENSP00000296589.4:p.Ala246GlufsTer?
ENST00000296589.8:c.737del	ENSP00000296589.4:p.Ala246GlufsTer?
ENST00000382102.7:c.737del	ENSP00000371534.3:p.Ala246GlufsTer?
ENST00000505056.1:n.539del
ENST00000509381.1:c.563-9338del	ENSP00000421100.1:n.563-9338del
ENST00000510600.1:c.212del	ENSP00000424010.1:p.Ala71GlufsTer?
NM_001012509.3:c.737del	NP_001012527.1:p.Ala246GlufsTer?
NM_001297417.2:c.563-9338del	NP_001284346.2:n.563-9338del
NM_016180.4:c.737del	NP_057264.3:p.Ala246GlufsTer?
XM_011514051.1:c.335del	XP_011512353.1:p.Ala112GlufsTer?
XM_011514052.1:c.737del	XP_011512354.1:p.Ala246GlufsTer?
XR_925620.1:n.1554del
NM_016180.5:c.737del MANE Select	NP_057264.4:p.Ala246GlufsTer?
NM_001012509.4:c.737del	NP_001012527.2:p.Ala246GlufsTer?
NM_001297417.3:c.563-9338del	NP_001284346.2:n.563-9338del
NM_001297417.4:c.563-9338del	NP_001284346.2:n.563-9338del