Canonical Allele Identifier: CA2499216394
Gene: SLC6A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.11020307del , CM000665.2:g.11020307del GRCh38
NC_000003.11:g.11061993del , CM000665.1:g.11061993del GRCh37
NC_000003.10:g.11036993del NCBI36
NG_053003.1:g.32579del

Transcript Alleles

HGVS Amino-acid Change
NM_003042.4:c.566del MANE Select NP_003033.3:p.Val189GlyfsTer12
ENST00000287766.10:c.566del MANE Select ENSP00000287766.4:p.Val189GlyfsTer12
NM_001348250.1:c.566del NP_001335179.1:p.Val189GlyfsTer12
NM_001348250.2:c.566del NP_001335179.1:p.Val189GlyfsTer12
NM_001348251.1:c.206del NP_001335180.1:p.Val69GlyfsTer12
NM_001348251.2:c.206del NP_001335180.1:p.Val69GlyfsTer12
NM_001348252.1:c.32del NP_001335181.1:p.Val11GlyfsTer12
NM_001348252.2:c.32del NP_001335181.1:p.Val11GlyfsTer12
NM_001348253.1:c.32del NP_001335182.1:p.Val11GlyfsTer12
NM_001348253.2:c.32del NP_001335182.1:p.Val11GlyfsTer12
NM_003042.3:c.566del NP_003033.3:p.Val189GlyfsTer12
ENST00000287766.8:c.566del ENSP00000287766.4:p.Val189GlyfsTer12
ENST00000425938.6:c.206del ENSP00000411689.2:p.Val69GlyfsTer12
ENST00000460480.1:n.340del
ENST00000460480.2:c.*139del ENSP00000494289.1:n.*139del
ENST00000642201.1:c.566del ENSP00000494778.1:p.Val189GlyfsTer12
ENST00000642515.1:c.566del ENSP00000496348.1:p.Val189GlyfsTer12
ENST00000642639.1:c.566del ENSP00000494191.1:p.Val189GlyfsTer12
ENST00000642735.1:c.566del ENSP00000494050.1:p.Val189GlyfsTer12
ENST00000642767.1:c.566del ENSP00000494346.1:p.Val189GlyfsTer12
ENST00000642820.1:c.566del ENSP00000495900.1:p.Val189GlyfsTer12
ENST00000642831.1:n.957del
ENST00000643326.1:c.303+1609del ENSP00000496465.1:n.303+1609del
ENST00000643396.1:c.566del ENSP00000494136.1:p.Val189GlyfsTer12
ENST00000643498.1:c.566del ENSP00000494997.1:p.Val189GlyfsTer12
ENST00000644314.1:c.206del ENSP00000493813.1:p.Val69GlyfsTer12
ENST00000644803.1:c.566del ENSP00000494469.1:p.Val189GlyfsTer12
ENST00000645029.1:c.566del ENSP00000496171.1:p.Val189GlyfsTer12
ENST00000645054.1:c.566del ENSP00000495751.1:p.Val189GlyfsTer12
ENST00000645281.1:c.32del ENSP00000493746.1:p.Val11GlyfsTer12
ENST00000645575.1:c.465del ENSP00000493666.1:p.Cys155TrpfsTer?
ENST00000645592.1:c.566del ENSP00000496619.1:p.Val189GlyfsTer12
ENST00000645598.1:n.398del
ENST00000645776.1:c.32del ENSP00000495375.1:p.Val11GlyfsTer12
ENST00000645974.1:c.566del ENSP00000496390.1:p.Val189GlyfsTer12
ENST00000645985.1:c.375del
ENST00000646022.1:c.566del ENSP00000494134.1:p.Val189GlyfsTer12
ENST00000646060.1:c.566del ENSP00000496302.1:p.Val189GlyfsTer12
ENST00000646072.1:c.32del ENSP00000494002.1:p.Val11GlyfsTer12
ENST00000646487.1:c.143del ENSP00000496768.1:p.Val48GlyfsTer12
ENST00000646570.1:c.566del ENSP00000496064.1:p.Val189GlyfsTer12
ENST00000646702.1:c.566del ENSP00000496697.1:p.Val189GlyfsTer12
ENST00000646886.1:n.921del
ENST00000646924.1:c.566del ENSP00000493591.1:p.Val189GlyfsTer12
ENST00000647194.1:c.566del ENSP00000496238.1:p.Val189GlyfsTer12
ENST00000647384.1:c.566del ENSP00000493779.1:p.Val189GlyfsTer12
ENST00000698198.1:c.638del ENSP00000513602.1:p.Val213GlyfsTer12
XM_005265410.3:c.566del XP_005265467.1:p.Val189GlyfsTer12
XM_005265410.5:c.566del XP_005265467.1:p.Val189GlyfsTer12
XM_005265411.3:c.566del XP_005265468.1:p.Val189GlyfsTer12
XM_005265411.5:c.566del XP_005265468.1:p.Val189GlyfsTer12
XM_006713306.2:c.566del XP_006713369.1:p.Val189GlyfsTer12
XM_011534025.1:c.566del XP_011532327.1:p.Val189GlyfsTer12
XM_011534025.3:c.566del XP_011532327.1:p.Val189GlyfsTer12
XM_011534026.1:c.566del XP_011532328.1:p.Val189GlyfsTer12
XM_011534027.1:c.566del XP_011532329.1:p.Val189GlyfsTer12
XM_011534027.3:c.566del XP_011532329.1:p.Val189GlyfsTer12
XM_011534028.1:c.566del XP_011532330.1:p.Val189GlyfsTer12
XM_017007071.2:c.566del XP_016862560.1:p.Val189GlyfsTer12
XM_017007072.2:c.566del XP_016862561.1:p.Val189GlyfsTer12