Canonical Allele Identifier: CA658653737

Gene: SLC6A9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44000810_44000811del , CM000663.2:g.44000810_44000811del	GRCh38
NC_000001.10:g.44466482_44466483del , CM000663.1:g.44466482_44466483del	GRCh37
NC_000001.9:g.44239069_44239070del	NCBI36
NG_050929.1:g.35682_35683del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372310.8:c.1492_1493del MANE Select	ENSP00000361384.4:p.Phe498LeufsTer?
ENST00000673836.1:c.1492_1493del	ENSP00000501314.1:p.Phe498LeufsTer?
ENST00000357730.6:c.1549_1550del	ENSP00000350362.2:p.Phe517LeufsTer?
ENST00000360584.6:c.1711_1712del	ENSP00000353791.2:p.Phe571LeufsTer?
ENST00000372306.7:c.1580_1581del	ENSP00000361380.3:p.Leu527ProfsTer?
ENST00000372307.7:c.1297_1298del	ENSP00000361381.3:p.Phe433LeufsTer?
ENST00000372310.7:c.1492_1493del	ENSP00000361384.3:p.Phe498LeufsTer?
ENST00000475075.6:c.1159_1160del	ENSP00000434460.1:p.Phe387LeufsTer?
NM_001024845.2:c.1492_1493del	NP_001020016.1:p.Phe498LeufsTer?
NM_001261380.1:c.1504_1505del	NP_001248309.1:p.Phe502LeufsTer?
NM_006934.3:c.1549_1550del	NP_008865.2:p.Phe517LeufsTer?
NM_201649.3:c.1711_1712del	NP_964012.2:p.Phe571LeufsTer?
NR_048548.1:n.1752_1753del
NR_048549.1:n.1475_1476del
XM_011542017.1:c.1711_1712del	XP_011540319.1:p.Phe571LeufsTer?
NM_001328626.1:c.1159_1160del	NP_001315555.1:p.Phe387LeufsTer?
NM_001328627.1:c.1429_1430del	NP_001315556.1:p.Phe477LeufsTer?
NM_001328628.1:c.1297_1298del	NP_001315557.1:p.Phe433LeufsTer?
NM_001328629.1:c.1492_1493del	NP_001315558.1:p.Phe498LeufsTer?
NM_001328630.1:c.1159_1160del	NP_001315559.1:p.Phe387LeufsTer?
XM_011542017.2:c.1711_1712del	XP_011540319.1:p.Phe571LeufsTer?
XM_017002152.2:c.1411_1412del	XP_016857641.1:p.Phe471LeufsTer?
XM_017002153.2:c.1378_1379del	XP_016857642.1:p.Phe460LeufsTer?
XM_024449295.1:c.1297_1298del	XP_024305063.1:p.Phe433LeufsTer?
NM_001024845.3:c.1492_1493del MANE Select	NP_001020016.1:p.Phe498LeufsTer?
NM_001261380.2:c.1504_1505del	NP_001248309.1:p.Phe502LeufsTer?
NM_001328626.2:c.1159_1160del	NP_001315555.1:p.Phe387LeufsTer?
NM_001328630.2:c.1159_1160del	NP_001315559.1:p.Phe387LeufsTer?
NM_006934.4:c.1549_1550del	NP_008865.2:p.Phe517LeufsTer?
NM_201649.4:c.1711_1712del	NP_964012.2:p.Phe571LeufsTer?
NR_048548.2:n.1575_1576del