Canonical Allele Identifier: CA20969691

Gene: TRIT1

Linked Data

• dbSNP Id: rs79710068
• gnomAD v2: 1-40312759-T-TATTCC
• gnomAD v3: 1-39847087-T-TATTCC
• gnomAD v4: 1-39847087-T-TATTCC
• COSMIC: COSN1104124
• MyVariant Identifiers: chr1:g.40312759_40312760insATTCC (hg19) ; chr1:g.39847087_39847088insATTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847088_39847089insTTCCA , CM000663.2:g.39847088_39847089insTTCCA	GRCh38
NC_000001.10:g.40312760_40312761insTTCCA , CM000663.1:g.40312760_40312761insTTCCA	GRCh37
NC_000001.9:g.40085347_40085348insTTCCA	NCBI36
NG_042822.1:g.41424_41425insGGAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.1006+132_1006+133insGGAAT MANE Select	ENSP00000321810.5:n.1006+132_1006+133insGGAAT
ENST00000648678.1:c.1898+132_1898+133insGGAAT	ENSP00000497805.1:n.1898+132_1898+133insGGAAT
ENST00000316891.9:c.1006+132_1006+133insGGAAT	ENSP00000321810.5:n.1006+132_1006+133insGGAAT
ENST00000372818.5:c.928+460_928+461insGGAAT	ENSP00000361905.1:n.928+460_928+461insGGAAT
ENST00000441669.6:c.760+132_760+133insGGAAT	ENSP00000388333.2:n.760+132_760+133insGGAAT
ENST00000462797.5:c.1006+132_1006+133insGGAAT	ENSP00000473773.1:n.1006+132_1006+133insGGAAT
ENST00000465417.5:n.190+132_190+133insGGAAT
ENST00000467774.1:n.420_421insGGAAT
ENST00000491865.5:n.241+132_241+133insGGAAT
ENST00000492612.6:c.850+132_850+133insGGAAT
ENST00000495175.6:c.*428+132_*428+133insGGAAT	ENSP00000474264.1:n.*428+132_*428+133insGGAAT
ENST00000537440.5:c.94+132_94+133insGGAAT	ENSP00000437700.1:n.94+132_94+133insGGAAT
ENST00000541099.5:c.-140-2448_-140-2447insGGAAT	ENSP00000437896.1:n.-140-2448_-140-2447insGGAAT
NM_001312691.1:c.928+460_928+461insGGAAT	NP_001299620.1:n.928+460_928+461insGGAAT
NM_001312692.1:c.760+132_760+133insGGAAT	NP_001299621.1:n.760+132_760+133insGGAAT
NM_017646.4:c.1006+132_1006+133insGGAAT	NP_060116.2:n.1006+132_1006+133insGGAAT
NM_017646.5:c.1006+132_1006+133insGGAAT	NP_060116.2:n.1006+132_1006+133insGGAAT
NR_132401.1:n.1022+132_1022+133insGGAAT
NR_132402.1:n.880+132_880+133insGGAAT
NR_132403.1:n.876+132_876+133insGGAAT
NR_132404.1:n.876+132_876+133insGGAAT
NR_132405.1:n.872+132_872+133insGGAAT
NR_132406.1:n.763+132_763+133insGGAAT
NR_132407.1:n.640+132_640+133insGGAAT
NR_132408.1:n.636+132_636+133insGGAAT
NR_132409.1:n.497+132_497+133insGGAAT
NR_132410.1:n.523+132_523+133insGGAAT
NR_132412.1:n.384+132_384+133insGGAAT
NR_132413.1:n.195-2448_195-2447insGGAAT
NR_132414.1:n.195-5175_195-5174insGGAAT
NR_132415.1:n.1113+132_1113+133insGGAAT
XM_005270954.1:c.763+132_763+133insGGAAT	XP_005271011.1:n.763+132_763+133insGGAAT
XM_006710706.1:c.583+132_583+133insGGAAT	XP_006710769.1:n.583+132_583+133insGGAAT
XM_005270954.2:c.763+132_763+133insGGAAT	XP_005271011.1:n.763+132_763+133insGGAAT
XR_946672.2:n.1106+132_1106+133insGGAAT
NM_017646.6:c.1006+132_1006+133insGGAAT MANE Select	NP_060116.2:n.1006+132_1006+133insGGAAT