Canonical Allele Identifier: CA2645075362

Gene: TRIT1

Linked Data

• gnomAD v4: 1-39847224-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847230dup , CM000663.2:g.39847230dup	GRCh38
NC_000001.10:g.40312902dup , CM000663.1:g.40312902dup	GRCh37
NC_000001.9:g.40085489dup	NCBI36
NG_042822.1:g.41287dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.1001dup MANE Select	ENSP00000321810.5:p.Leu334PhefsTer18
ENST00000648678.1:c.1893dup	ENSP00000497805.1:n.1893dup
ENST00000316891.9:c.1001dup	ENSP00000321810.5:p.Leu334PhefsTer18
ENST00000372818.5:c.928+323dup	ENSP00000361905.1:n.928+323dup
ENST00000441669.6:c.755dup	ENSP00000388333.2:p.Leu252PhefsTer18
ENST00000462797.5:c.1001dup	ENSP00000473773.1:p.Leu334PhefsTer12
ENST00000465417.5:n.185dup
ENST00000467774.1:n.283dup
ENST00000489945.5:c.*419dup	ENSP00000473745.1:n.*419dup
ENST00000491865.5:n.236dup
ENST00000492612.6:c.845dup
ENST00000495175.6:c.*423dup	ENSP00000474264.1:n.*423dup
ENST00000537440.5:c.89dup	ENSP00000437700.1:p.Leu30PhefsTer18
ENST00000541099.5:c.-140-2585dup	ENSP00000437896.1:n.-140-2585dup
NM_001312691.1:c.928+323dup	NP_001299620.1:n.928+323dup
NM_001312692.1:c.755dup	NP_001299621.1:p.Leu252PhefsTer18
NM_017646.4:c.1001dup	NP_060116.2:p.Leu334PhefsTer18
NM_017646.5:c.1001dup	NP_060116.2:p.Leu334PhefsTer18
NR_132401.1:n.1017dup
NR_132402.1:n.875dup
NR_132403.1:n.871dup
NR_132404.1:n.871dup
NR_132405.1:n.867dup
NR_132406.1:n.758dup
NR_132407.1:n.635dup
NR_132408.1:n.631dup
NR_132409.1:n.492dup
NR_132410.1:n.518dup
NR_132412.1:n.379dup
NR_132413.1:n.195-2585dup
NR_132414.1:n.195-5312dup
NR_132415.1:n.1108dup
XM_005270954.1:c.758dup	XP_005271011.1:p.Leu253PhefsTer18
XM_006710706.1:c.578dup	XP_006710769.1:p.Leu193PhefsTer18
XM_005270954.2:c.758dup	XP_005271011.1:p.Leu253PhefsTer18
XR_946672.2:n.1101dup
NM_017646.6:c.1001dup MANE Select	NP_060116.2:p.Leu334PhefsTer18