Canonical Allele Identifier: CA1538211719

Gene: SLC45A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951641_33951668delinsAGTTGTGTGCACTATAGGGATCCCCGCG , CM000667.2:g.33951641_33951668delinsAGTTGTGTGCACTATAGGGATCCCCGCG	GRCh38
NC_000005.9:g.33951746_33951773delinsAGTTGTGTGCACTATAGGGATCCCCGCG , CM000667.1:g.33951746_33951773delinsAGTTGTGTGCACTATAGGGATCCCCGCG	GRCh37
NC_000005.8:g.33987503_33987530delinsAGTTGTGTGCACTATAGGGATCCCCGCG	NCBI36
NG_011691.2:g.38008_38035delinsCGCGGGGATCCCTATAGTGCACACAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1042_1069delinsCGCGGGGATCCCTATAGTGCACACAACT MANE Select	ENSP00000296589.4:p.Arg348=
ENST00000296589.8:c.1042_1069delinsCGCGGGGATCCCTATAGTGCACACAACT	ENSP00000296589.4:p.Arg348=
ENST00000382102.7:c.1042_1069delinsCGCGGGGATCCCTATAGTGCACACAACT	ENSP00000371534.3:p.Arg348=
ENST00000509381.1:c.716_*11delinsCGCGGGGATCCCTATAGTGCACACAACT	ENSP00000421100.1:n.[c.716_*11delinsCGCGGGGATCCCTATAGTGCACACA...
ENST00000510600.1:c.517_544delinsCGCGGGGATCCCTATAGTGCACACAACT	ENSP00000424010.1:p.Arg173=
NM_001012509.3:c.1042_1069delinsCGCGGGGATCCCTATAGTGCACACAACT	NP_001012527.1:p.Arg348=
NM_001297417.2:c.716_*11delinsCGCGGGGATCCCTATAGTGCACACAACT	NP_001284346.2:n.[c.716_*11delinsCGCGGGGATCCCTATAGTGCACACAACT...
NM_016180.4:c.1042_1069delinsCGCGGGGATCCCTATAGTGCACACAACT	NP_057264.3:p.Arg348=
XM_011514051.1:c.640_667delinsCGCGGGGATCCCTATAGTGCACACAACT	XP_011512353.1:p.Arg214=
XR_925620.1:n.1859_1886delinsCGCGGGGATCCCTATAGTGCACACAACT
NM_016180.5:c.1042_1069delinsCGCGGGGATCCCTATAGTGCACACAACT MANE Select	NP_057264.4:p.Arg348=
NM_001012509.4:c.1042_1069delinsCGCGGGGATCCCTATAGTGCACACAACT	NP_001012527.2:p.Arg348=
NM_001297417.3:c.716_*11delinsCGCGGGGATCCCTATAGTGCACACAACT	NP_001284346.2:n.[c.716_*11delinsCGCGGGGATCCCTATAGTGCACACAACT...
NM_001297417.4:c.716_*11delinsCGCGGGGATCCCTATAGTGCACACAACT	NP_001284346.2:n.[c.716_*11delinsCGCGGGGATCCCTATAGTGCACACAACT...