Canonical Allele Identifier: CA1164144214
Gene: TRIT1 HGNC NCBI

Linked Data

dbSNP Id: rs1642278002

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.39847230_39847231insAAAAAAAATTATTTG , CM000663.2:g.39847230_39847231insAAAAAAAATTATTTG GRCh38
NC_000001.10:g.40312902_40312903insAAAAAAAATTATTTG , CM000663.1:g.40312902_40312903insAAAAAAAATTATTTG GRCh37
NC_000001.9:g.40085489_40085490insAAAAAAAATTATTTG NCBI36
NG_042822.1:g.41281_41282insCAAATAATTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000316891.10:c.995_996insCAAATAATTTTTTTT MANE Select ENSP00000321810.5:p.Arg333LysfsTer2
ENST00000648678.1:c.1887_1888insCAAATAATTTTTTTT ENSP00000497805.1:n.1887_1888insCAAATAATTTTTTTT
ENST00000316891.9:c.995_996insCAAATAATTTTTTTT ENSP00000321810.5:p.Arg333LysfsTer2
ENST00000372818.5:c.928+317_928+318insCAAATAATTTTTTTT ENSP00000361905.1:n.928+317_928+318insCAAATAATTTTTTTT
ENST00000441669.6:c.749_750insCAAATAATTTTTTTT ENSP00000388333.2:p.Arg251LysfsTer2
ENST00000462797.5:c.995_996insCAAATAATTTTTTTT ENSP00000473773.1:p.Arg333LysfsTer2
ENST00000465417.5:n.179_180insCAAATAATTTTTTTT
ENST00000467774.1:n.277_278insCAAATAATTTTTTTT
ENST00000489945.5:c.*413_*414insCAAATAATTTTTTTT ENSP00000473745.1:n.*413_*414insCAAATAATTTTTTTT
ENST00000491865.5:n.230_231insCAAATAATTTTTTTT
ENST00000492612.6:c.839_840insCAAATAATTTTTTTT
ENST00000495175.6:c.*417_*418insCAAATAATTTTTTTT ENSP00000474264.1:n.*417_*418insCAAATAATTTTTTTT
ENST00000537440.5:c.83_84insCAAATAATTTTTTTT ENSP00000437700.1:p.Arg29LysfsTer2
ENST00000541099.5:c.-140-2591_-140-2590insCAAATAATTTTTTTT ENSP00000437896.1:n.-140-2591_-140-2590insCAAATAATTTTTTTT
NM_001312691.1:c.928+317_928+318insCAAATAATTTTTTTT NP_001299620.1:n.928+317_928+318insCAAATAATTTTTTTT
NM_001312692.1:c.749_750insCAAATAATTTTTTTT NP_001299621.1:p.Arg251LysfsTer2
NM_017646.4:c.995_996insCAAATAATTTTTTTT NP_060116.2:p.Arg333LysfsTer2
NM_017646.5:c.995_996insCAAATAATTTTTTTT NP_060116.2:p.Arg333LysfsTer2
NR_132401.1:n.1011_1012insCAAATAATTTTTTTT
NR_132402.1:n.869_870insCAAATAATTTTTTTT
NR_132403.1:n.865_866insCAAATAATTTTTTTT
NR_132404.1:n.865_866insCAAATAATTTTTTTT
NR_132405.1:n.861_862insCAAATAATTTTTTTT
NR_132406.1:n.752_753insCAAATAATTTTTTTT
NR_132407.1:n.629_630insCAAATAATTTTTTTT
NR_132408.1:n.625_626insCAAATAATTTTTTTT
NR_132409.1:n.486_487insCAAATAATTTTTTTT
NR_132410.1:n.512_513insCAAATAATTTTTTTT
NR_132412.1:n.373_374insCAAATAATTTTTTTT
NR_132413.1:n.195-2591_195-2590insCAAATAATTTTTTTT
NR_132414.1:n.195-5318_195-5317insCAAATAATTTTTTTT
NR_132415.1:n.1102_1103insCAAATAATTTTTTTT
XM_005270954.1:c.752_753insCAAATAATTTTTTTT XP_005271011.1:p.Arg252LysfsTer2
XM_006710706.1:c.572_573insCAAATAATTTTTTTT XP_006710769.1:p.Arg192LysfsTer2
XM_005270954.2:c.752_753insCAAATAATTTTTTTT XP_005271011.1:p.Arg252LysfsTer2
XR_946672.2:n.1095_1096insCAAATAATTTTTTTT
NM_017646.6:c.995_996insCAAATAATTTTTTTT MANE Select NP_060116.2:p.Arg333LysfsTer2