Canonical Allele Identifier: CA2578282332

Gene: SLC45A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951468_33951470del , CM000667.2:g.33951468_33951470del	GRCh38
NC_000005.9:g.33951573_33951575del , CM000667.1:g.33951573_33951575del	GRCh37
NC_000005.8:g.33987330_33987332del	NCBI36
NG_011691.2:g.38208_38210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1156+86_1156+88del MANE Select	ENSP00000296589.4:n.1156+86_1156+88del
ENST00000296589.8:c.1156+86_1156+88del	ENSP00000296589.4:n.1156+86_1156+88del
ENST00000382102.7:c.1156+86_1156+88del	ENSP00000371534.3:n.1156+86_1156+88del
ENST00000509381.1:c.*184_*186del	ENSP00000421100.1:n.*184_*186del
ENST00000510600.1:c.631+86_631+88del	ENSP00000424010.1:n.631+86_631+88del
NM_001012509.3:c.1156+86_1156+88del	NP_001012527.1:n.1156+86_1156+88del
NM_001297417.2:c.*184_*186del	NP_001284346.2:n.*184_*186del
NM_016180.4:c.1156+86_1156+88del	NP_057264.3:n.1156+86_1156+88del
XM_011514051.1:c.754+86_754+88del	XP_011512353.1:n.754+86_754+88del
XR_925620.1:n.1973+86_1973+88del
NM_016180.5:c.1156+86_1156+88del MANE Select	NP_057264.4:n.1156+86_1156+88del
NM_001012509.4:c.1156+86_1156+88del	NP_001012527.2:n.1156+86_1156+88del
NM_001297417.3:c.*184_*186del	NP_001284346.2:n.*184_*186del
NM_001297417.4:c.*184_*186del	NP_001284346.2:n.*184_*186del