Canonical Allele Identifier: CA2765834588

Gene: SLC45A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963977_33963981del , CM000667.2:g.33963977_33963981del	GRCh38
NC_000005.9:g.33964082_33964086del , CM000667.1:g.33964082_33964086del	GRCh37
NC_000005.8:g.33999839_33999843del	NCBI36
NG_011691.2:g.25695_25699del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.598_602del MANE Select	ENSP00000296589.4:p.Ile200LeufsTer?
ENST00000296589.8:c.598_602del	ENSP00000296589.4:p.Ile200LeufsTer?
ENST00000382102.7:c.598_602del	ENSP00000371534.3:p.Ile200LeufsTer?
ENST00000505056.1:n.400_404del
ENST00000509381.1:c.563-9477_563-9473del	ENSP00000421100.1:n.563-9477_563-9473del
ENST00000510600.1:c.73_77del	ENSP00000424010.1:p.Ile25LeufsTer?
NM_001012509.3:c.598_602del	NP_001012527.1:p.Ile200LeufsTer?
NM_001297417.2:c.563-9477_563-9473del	NP_001284346.2:n.563-9477_563-9473del
NM_016180.4:c.598_602del	NP_057264.3:p.Ile200LeufsTer?
XM_011514051.1:c.196_200del	XP_011512353.1:p.Ile66LeufsTer?
XM_011514052.1:c.598_602del	XP_011512354.1:p.Ile200LeufsTer?
XR_925620.1:n.1415_1419del
NM_016180.5:c.598_602del MANE Select	NP_057264.4:p.Ile200LeufsTer?
NM_001012509.4:c.598_602del	NP_001012527.2:p.Ile200LeufsTer?
NM_001297417.3:c.563-9477_563-9473del	NP_001284346.2:n.563-9477_563-9473del
NM_001297417.4:c.563-9477_563-9473del	NP_001284346.2:n.563-9477_563-9473del