Canonical Allele Identifier: CA2645075247
Gene: TRIT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.39847046_39847047del , CM000663.2:g.39847046_39847047del GRCh38
NC_000001.10:g.40312718_40312719del , CM000663.1:g.40312718_40312719del GRCh37
NC_000001.9:g.40085305_40085306del NCBI36
NG_042822.1:g.41467_41468del

Transcript Alleles

HGVS Amino-acid Change
ENST00000316891.10:c.1006+175_1006+176del MANE Select ENSP00000321810.5:n.1006+175_1006+176del
ENST00000648678.1:c.1898+175_1898+176del ENSP00000497805.1:n.1898+175_1898+176del
ENST00000316891.9:c.1006+175_1006+176del ENSP00000321810.5:n.1006+175_1006+176del
ENST00000372818.5:c.928+503_928+504del ENSP00000361905.1:n.928+503_928+504del
ENST00000441669.6:c.760+175_760+176del ENSP00000388333.2:n.760+175_760+176del
ENST00000462797.5:c.1006+175_1006+176del ENSP00000473773.1:n.1006+175_1006+176del
ENST00000465417.5:n.190+175_190+176del
ENST00000467774.1:n.463_464del
ENST00000491865.5:n.241+175_241+176del
ENST00000492612.6:c.850+175_850+176del
ENST00000495175.6:c.*428+175_*428+176del ENSP00000474264.1:n.*428+175_*428+176del
ENST00000537440.5:c.94+175_94+176del ENSP00000437700.1:n.94+175_94+176del
ENST00000541099.5:c.-140-2405_-140-2404del ENSP00000437896.1:n.-140-2405_-140-2404del
NM_001312691.1:c.928+503_928+504del NP_001299620.1:n.928+503_928+504del
NM_001312692.1:c.760+175_760+176del NP_001299621.1:n.760+175_760+176del
NM_017646.4:c.1006+175_1006+176del NP_060116.2:n.1006+175_1006+176del
NM_017646.5:c.1006+175_1006+176del NP_060116.2:n.1006+175_1006+176del
NR_132401.1:n.1022+175_1022+176del
NR_132402.1:n.880+175_880+176del
NR_132403.1:n.876+175_876+176del
NR_132404.1:n.876+175_876+176del
NR_132405.1:n.872+175_872+176del
NR_132406.1:n.763+175_763+176del
NR_132407.1:n.640+175_640+176del
NR_132408.1:n.636+175_636+176del
NR_132409.1:n.497+175_497+176del
NR_132410.1:n.523+175_523+176del
NR_132412.1:n.384+175_384+176del
NR_132413.1:n.195-2405_195-2404del
NR_132414.1:n.195-5132_195-5131del
NR_132415.1:n.1113+175_1113+176del
XM_005270954.1:c.763+175_763+176del XP_005271011.1:n.763+175_763+176del
XM_006710706.1:c.583+175_583+176del XP_006710769.1:n.583+175_583+176del
XM_005270954.2:c.763+175_763+176del XP_005271011.1:n.763+175_763+176del
XR_946672.2:n.1106+175_1106+176del
NM_017646.6:c.1006+175_1006+176del MANE Select NP_060116.2:n.1006+175_1006+176del