Canonical Allele Identifier: CA2743285342
Gene: TRIT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.39847047_39847057del , CM000663.2:g.39847047_39847057del GRCh38
NC_000001.10:g.40312719_40312729del , CM000663.1:g.40312719_40312729del GRCh37
NC_000001.9:g.40085306_40085316del NCBI36
NG_042822.1:g.41455_41465del

Transcript Alleles

HGVS Amino-acid Change
ENST00000316891.10:c.1006+163_1006+173del MANE Select ENSP00000321810.5:n.1006+163_1006+173del
ENST00000648678.1:c.1898+163_1898+173del ENSP00000497805.1:n.1898+163_1898+173del
ENST00000316891.9:c.1006+163_1006+173del ENSP00000321810.5:n.1006+163_1006+173del
ENST00000372818.5:c.928+491_928+501del ENSP00000361905.1:n.928+491_928+501del
ENST00000441669.6:c.760+163_760+173del ENSP00000388333.2:n.760+163_760+173del
ENST00000462797.5:c.1006+163_1006+173del ENSP00000473773.1:n.1006+163_1006+173del
ENST00000465417.5:n.190+163_190+173del
ENST00000467774.1:n.451_461del
ENST00000491865.5:n.241+163_241+173del
ENST00000492612.6:c.850+163_850+173del
ENST00000495175.6:c.*428+163_*428+173del ENSP00000474264.1:n.*428+163_*428+173del
ENST00000537440.5:c.94+163_94+173del ENSP00000437700.1:n.94+163_94+173del
ENST00000541099.5:c.-140-2417_-140-2407del ENSP00000437896.1:n.-140-2417_-140-2407del
NM_001312691.1:c.928+491_928+501del NP_001299620.1:n.928+491_928+501del
NM_001312692.1:c.760+163_760+173del NP_001299621.1:n.760+163_760+173del
NM_017646.4:c.1006+163_1006+173del NP_060116.2:n.1006+163_1006+173del
NM_017646.5:c.1006+163_1006+173del NP_060116.2:n.1006+163_1006+173del
NR_132401.1:n.1022+163_1022+173del
NR_132402.1:n.880+163_880+173del
NR_132403.1:n.876+163_876+173del
NR_132404.1:n.876+163_876+173del
NR_132405.1:n.872+163_872+173del
NR_132406.1:n.763+163_763+173del
NR_132407.1:n.640+163_640+173del
NR_132408.1:n.636+163_636+173del
NR_132409.1:n.497+163_497+173del
NR_132410.1:n.523+163_523+173del
NR_132412.1:n.384+163_384+173del
NR_132413.1:n.195-2417_195-2407del
NR_132414.1:n.195-5144_195-5134del
NR_132415.1:n.1113+163_1113+173del
XM_005270954.1:c.763+163_763+173del XP_005271011.1:n.763+163_763+173del
XM_006710706.1:c.583+163_583+173del XP_006710769.1:n.583+163_583+173del
XM_005270954.2:c.763+163_763+173del XP_005271011.1:n.763+163_763+173del
XR_946672.2:n.1106+163_1106+173del
NM_017646.6:c.1006+163_1006+173del MANE Select NP_060116.2:n.1006+163_1006+173del