Canonical Allele Identifier: CA2765834566

Gene: SLC45A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963934_33963947del , CM000667.2:g.33963934_33963947del	GRCh38
NC_000005.9:g.33964039_33964052del , CM000667.1:g.33964039_33964052del	GRCh37
NC_000005.8:g.33999796_33999809del	NCBI36
NG_011691.2:g.25729_25742del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.632_645del MANE Select	ENSP00000296589.4:p.Leu211SerfsTer24
ENST00000296589.8:c.632_645del	ENSP00000296589.4:p.Leu211SerfsTer24
ENST00000382102.7:c.632_645del	ENSP00000371534.3:p.Leu211SerfsTer24
ENST00000505056.1:n.434_447del
ENST00000509381.1:c.563-9443_563-9430del	ENSP00000421100.1:n.563-9443_563-9430del
ENST00000510600.1:c.107_120del	ENSP00000424010.1:p.Leu36SerfsTer24
NM_001012509.3:c.632_645del	NP_001012527.1:p.Leu211SerfsTer24
NM_001297417.2:c.563-9443_563-9430del	NP_001284346.2:n.563-9443_563-9430del
NM_016180.4:c.632_645del	NP_057264.3:p.Leu211SerfsTer24
XM_011514051.1:c.230_243del	XP_011512353.1:p.Leu77SerfsTer24
XM_011514052.1:c.632_645del	XP_011512354.1:p.Leu211SerfsTer24
XR_925620.1:n.1449_1462del
NM_016180.5:c.632_645del MANE Select	NP_057264.4:p.Leu211SerfsTer24
NM_001012509.4:c.632_645del	NP_001012527.2:p.Leu211SerfsTer24
NM_001297417.3:c.563-9443_563-9430del	NP_001284346.2:n.563-9443_563-9430del
NM_001297417.4:c.563-9443_563-9430del	NP_001284346.2:n.563-9443_563-9430del