Canonical Allele Identifier: CA16617798
Gene: SLC6A1 HGNC NCBI

Linked Data

dbSNP Id: rs1064795662

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.11020250_11020251del , CM000665.2:g.11020250_11020251del GRCh38
NC_000003.11:g.11061936_11061937del , CM000665.1:g.11061936_11061937del GRCh37
NC_000003.10:g.11036936_11036937del NCBI36
NG_053003.1:g.32522_32523del

Transcript Alleles

HGVS Amino-acid change
ENST00000698198.1:c.581_582del ENSP00000513602.1:p.Thr194ArgfsTer?
ENST00000287766.10:c.509_510del MANE Select ENSP00000287766.4:p.Thr170ArgfsTer?
ENST00000425938.6:c.149_150del ENSP00000411689.2:p.Thr50ArgfsTer?
ENST00000460480.2:c.*82_*83del ENSP00000494289.1:n.*82_*83del
ENST00000642201.1:c.509_510del ENSP00000494778.1:p.Thr170ArgfsTer?
ENST00000642515.1:c.509_510del ENSP00000496348.1:p.Thr170ArgfsTer?
ENST00000642639.1:c.509_510del ENSP00000494191.1:p.Thr170ArgfsTer?
ENST00000642735.1:c.509_510del ENSP00000494050.1:p.Thr170ArgfsTer?
ENST00000642767.1:c.509_510del ENSP00000494346.1:p.Thr170ArgfsTer?
ENST00000642820.1:c.509_510del ENSP00000495900.1:p.Thr170ArgfsTer?
ENST00000642831.1:n.900_901del
ENST00000643326.1:c.303+1552_303+1553del ENSP00000496465.1:n.303+1552_303+1553del
ENST00000643396.1:c.509_510del ENSP00000494136.1:p.Thr170ArgfsTer?
ENST00000643498.1:c.509_510del ENSP00000494997.1:p.Thr170ArgfsTer?
ENST00000644314.1:c.149_150del ENSP00000493813.1:p.Thr50ArgfsTer?
ENST00000644803.1:c.509_510del ENSP00000494469.1:p.Thr170ArgfsTer?
ENST00000645029.1:c.509_510del ENSP00000496171.1:p.Thr170ArgfsTer?
ENST00000645054.1:c.509_510del ENSP00000495751.1:p.Thr170ArgfsTer?
ENST00000645281.1:c.-26_-25del ENSP00000493746.1:n.-26_-25del
ENST00000645575.1:c.408_409del ENSP00000493666.1:p.His136GlnfsTer16
ENST00000645592.1:c.509_510del ENSP00000496619.1:p.Thr170ArgfsTer?
ENST00000645598.1:n.341_342del
ENST00000645776.1:c.-26_-25del ENSP00000495375.1:n.-26_-25del
ENST00000645974.1:c.509_510del ENSP00000496390.1:p.Thr170ArgfsTer?
ENST00000645985.1:c.318_319del
ENST00000646022.1:c.509_510del ENSP00000494134.1:p.Thr170ArgfsTer?
ENST00000646060.1:c.509_510del ENSP00000496302.1:p.Thr170ArgfsTer?
ENST00000646072.1:c.-26_-25del ENSP00000494002.1:n.-26_-25del
ENST00000646487.1:c.86_87del ENSP00000496768.1:p.Thr29ArgfsTer?
ENST00000646570.1:c.509_510del ENSP00000496064.1:p.Thr170ArgfsTer?
ENST00000646702.1:c.509_510del ENSP00000496697.1:p.Thr170ArgfsTer?
ENST00000646886.1:n.864_865del
ENST00000646924.1:c.509_510del ENSP00000493591.1:p.Thr170ArgfsTer?
ENST00000647194.1:c.509_510del ENSP00000496238.1:p.Thr170ArgfsTer?
ENST00000647384.1:c.509_510del ENSP00000493779.1:p.Thr170ArgfsTer?
ENST00000287766.8:c.509_510del ENSP00000287766.4:p.Thr170ArgfsTer?
ENST00000460480.1:n.283_284del
NM_003042.3:c.509_510del NP_003033.3:p.Thr170ArgfsTer?
XM_005265410.3:c.509_510del XP_005265467.1:p.Thr170ArgfsTer?
XM_005265411.3:c.509_510del XP_005265468.1:p.Thr170ArgfsTer?
XM_006713306.2:c.509_510del XP_006713369.1:p.Thr170ArgfsTer?
XM_011534025.1:c.509_510del XP_011532327.1:p.Thr170ArgfsTer?
XM_011534026.1:c.509_510del XP_011532328.1:p.Thr170ArgfsTer?
XM_011534027.1:c.509_510del XP_011532329.1:p.Thr170ArgfsTer?
XM_011534028.1:c.509_510del XP_011532330.1:p.Thr170ArgfsTer?
NM_001348250.1:c.509_510del NP_001335179.1:p.Thr170ArgfsTer?
NM_001348251.1:c.149_150del NP_001335180.1:p.Thr50ArgfsTer?
NM_001348252.1:c.-26_-25del NP_001335181.1:n.-26_-25del
NM_001348253.1:c.-26_-25del NP_001335182.1:n.-26_-25del
XM_005265410.5:c.509_510del XP_005265467.1:p.Thr170ArgfsTer?
XM_005265411.5:c.509_510del XP_005265468.1:p.Thr170ArgfsTer?
XM_011534025.3:c.509_510del XP_011532327.1:p.Thr170ArgfsTer?
XM_011534027.3:c.509_510del XP_011532329.1:p.Thr170ArgfsTer?
XM_017007071.2:c.509_510del XP_016862560.1:p.Thr170ArgfsTer?
XM_017007072.2:c.509_510del XP_016862561.1:p.Thr170ArgfsTer?
NM_003042.4:c.509_510del MANE Select NP_003033.3:p.Thr170ArgfsTer?
NM_001348250.2:c.509_510del NP_001335179.1:p.Thr170ArgfsTer?
NM_001348251.2:c.149_150del NP_001335180.1:p.Thr50ArgfsTer?
NM_001348252.2:c.-26_-25del NP_001335181.1:n.-26_-25del
NM_001348253.2:c.-26_-25del NP_001335182.1:n.-26_-25del