Canonical Allele Identifier: CA2743285346
Gene: TRIT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.39847052_39847056del , CM000663.2:g.39847052_39847056del GRCh38
NC_000001.10:g.40312724_40312728del , CM000663.1:g.40312724_40312728del GRCh37
NC_000001.9:g.40085311_40085315del NCBI36
NG_042822.1:g.41456_41460del

Transcript Alleles

HGVS Amino-acid Change
ENST00000316891.10:c.1006+164_1006+168del MANE Select ENSP00000321810.5:n.1006+164_1006+168del
ENST00000648678.1:c.1898+164_1898+168del ENSP00000497805.1:n.1898+164_1898+168del
ENST00000316891.9:c.1006+164_1006+168del ENSP00000321810.5:n.1006+164_1006+168del
ENST00000372818.5:c.928+492_928+496del ENSP00000361905.1:n.928+492_928+496del
ENST00000441669.6:c.760+164_760+168del ENSP00000388333.2:n.760+164_760+168del
ENST00000462797.5:c.1006+164_1006+168del ENSP00000473773.1:n.1006+164_1006+168del
ENST00000465417.5:n.190+164_190+168del
ENST00000467774.1:n.452_456del
ENST00000491865.5:n.241+164_241+168del
ENST00000492612.6:c.850+164_850+168del
ENST00000495175.6:c.*428+164_*428+168del ENSP00000474264.1:n.*428+164_*428+168del
ENST00000537440.5:c.94+164_94+168del ENSP00000437700.1:n.94+164_94+168del
ENST00000541099.5:c.-140-2416_-140-2412del ENSP00000437896.1:n.-140-2416_-140-2412del
NM_001312691.1:c.928+492_928+496del NP_001299620.1:n.928+492_928+496del
NM_001312692.1:c.760+164_760+168del NP_001299621.1:n.760+164_760+168del
NM_017646.4:c.1006+164_1006+168del NP_060116.2:n.1006+164_1006+168del
NM_017646.5:c.1006+164_1006+168del NP_060116.2:n.1006+164_1006+168del
NR_132401.1:n.1022+164_1022+168del
NR_132402.1:n.880+164_880+168del
NR_132403.1:n.876+164_876+168del
NR_132404.1:n.876+164_876+168del
NR_132405.1:n.872+164_872+168del
NR_132406.1:n.763+164_763+168del
NR_132407.1:n.640+164_640+168del
NR_132408.1:n.636+164_636+168del
NR_132409.1:n.497+164_497+168del
NR_132410.1:n.523+164_523+168del
NR_132412.1:n.384+164_384+168del
NR_132413.1:n.195-2416_195-2412del
NR_132414.1:n.195-5143_195-5139del
NR_132415.1:n.1113+164_1113+168del
XM_005270954.1:c.763+164_763+168del XP_005271011.1:n.763+164_763+168del
XM_006710706.1:c.583+164_583+168del XP_006710769.1:n.583+164_583+168del
XM_005270954.2:c.763+164_763+168del XP_005271011.1:n.763+164_763+168del
XR_946672.2:n.1106+164_1106+168del
NM_017646.6:c.1006+164_1006+168del MANE Select NP_060116.2:n.1006+164_1006+168del