Canonical Allele Identifier: CA2614922251

Gene: TOMT LRRC51 ANAPC15 LRTOMT

Linked Data

• gnomAD v4: 11-72109083-T-TTGAGGTCAGTGTAGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72109083_72109084insTGAGGTCAGTGTAGAG , CM000673.2:g.72109083_72109084insTGAGGTCAGTGTAGAG	GRCh38
NC_000011.9:g.71820129_71820130insTGAGGTCAGTGTAGAG , CM000673.1:g.71820129_71820130insTGAGGTCAGTGTAGAG	GRCh37
NC_000011.8:g.71497777_71497778insTGAGGTCAGTGTAGAG	NCBI36
NG_021423.1:g.33748_33749insTGAGGTCAGTGTAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.*158_*159insTGAGGTCAGTGTAGAG (TOMT) MANE Select	ENSP00000494667.1:n.*158_*159insTGAGGTCAGTGTAGAG
ENST00000541899.2:c.*158_*159insTGAGGTCAGTGTAGAG (TOMT)	ENSP00000494667.1:n.*158_*159insTGAGGTCAGTGTAGAG
ENST00000307198.11:c.*158_*159insTGAGGTCAGTGTAGAG (LRRC51)	ENSP00000305742.7:n.*158_*159insTGAGGTCAGTGTAGAG
ENST00000419228.2:c.*445_*446insTGAGGTCAGTGTAGAG (LRRC51)	ENSP00000392233.2:n.*445_*446insTGAGGTCAGTGTAGAG
ENST00000427369.6:c.*753_*754insTGAGGTCAGTGTAGAG (LRRC51)	ENSP00000409403.2:n.*753_*754insTGAGGTCAGTGTAGAG
ENST00000435085.5:c.*158_*159insTGAGGTCAGTGTAGAG (LRRC51)	ENSP00000409789.1:n.*158_*159insTGAGGTCAGTGTAGAG
ENST00000502597.2:c.63+1004_63+1005insCTCTACACTGACCTCA (ANAPC15)	ENSP00000441774.1:n.63+1004_63+1005insCTCTACACTGACCTCA
ENST00000538117.5:c.*98+145_*98+146insCTCTACACTGACCTCA (ANAPC15)	ENSP00000445212.1:n.*98+145_*98+146insCTCTACACTGACCTCA
ENST00000543050.5:c.318+1004_318+1005insCTCTACACTGACCTCA (ANAPC15)	ENSP00000437360.1:n.318+1004_318+1005insCTCTACACTGACCTCA
ENST00000544409.5:c.*753_*754insTGAGGTCAGTGTAGAG (LRRC51)	ENSP00000440969.1:n.*753_*754insTGAGGTCAGTGTAGAG
NM_001145308.4:c.*158_*159insTGAGGTCAGTGTAGAG (LRTOMT)	NP_001138780.1:n.*158_*159insTGAGGTCAGTGTAGAG
NM_001145309.3:c.*158_*159insTGAGGTCAGTGTAGAG (LRTOMT)	NP_001138781.1:n.*158_*159insTGAGGTCAGTGTAGAG
NM_001145310.3:c.*158_*159insTGAGGTCAGTGTAGAG (LRTOMT)	NP_001138782.1:n.*158_*159insTGAGGTCAGTGTAGAG
XM_011544849.1:c.1259_1260insTGAGGTCAGTGTAGAG (LRTOMT)	XP_011543151.1:n.1259_1260insTGAGGTCAGTGTAGAG
NM_001330321.1:c.318+1004_318+1005insCTCTACACTGACCTCA (ANAPC15)	NP_001317250.1:n.318+1004_318+1005insCTCTACACTGACCTCA
XM_024448401.1:c.1259_1260insTGAGGTCAGTGTAGAG (LRTOMT)	XP_024304169.1:n.1259_1260insTGAGGTCAGTGTAGAG
NM_001145308.5:c.*158_*159insTGAGGTCAGTGTAGAG (LRTOMT)	NP_001138780.1:n.*158_*159insTGAGGTCAGTGTAGAG
NM_001145309.4:c.*158_*159insTGAGGTCAGTGTAGAG (LRTOMT)	NP_001138781.1:n.*158_*159insTGAGGTCAGTGTAGAG
NM_001145310.4:c.*158_*159insTGAGGTCAGTGTAGAG (LRTOMT)	NP_001138782.1:n.*158_*159insTGAGGTCAGTGTAGAG
NM_001330321.2:c.318+1004_318+1005insCTCTACACTGACCTCA (ANAPC15)	NP_001317250.1:n.318+1004_318+1005insCTCTACACTGACCTCA
NM_001393427.1:c.318+1004_318+1005insCTCTACACTGACCTCA (ANAPC15)	NP_001380356.1:n.318+1004_318+1005insCTCTACACTGACCTCA
NM_001393428.1:c.318+1004_318+1005insCTCTACACTGACCTCA (ANAPC15)	NP_001380357.1:n.318+1004_318+1005insCTCTACACTGACCTCA
NM_001393429.1:c.318+1004_318+1005insCTCTACACTGACCTCA (ANAPC15)	NP_001380358.1:n.318+1004_318+1005insCTCTACACTGACCTCA
NM_001393430.1:c.318+1004_318+1005insCTCTACACTGACCTCA (ANAPC15)	NP_001380359.1:n.318+1004_318+1005insCTCTACACTGACCTCA
NM_001393431.1:c.318+1004_318+1005insCTCTACACTGACCTCA (ANAPC15)	NP_001380360.1:n.318+1004_318+1005insCTCTACACTGACCTCA
NM_001393443.1:c.319-209_319-208insCTCTACACTGACCTCA (ANAPC15)	NP_001380372.1:n.319-209_319-208insCTCTACACTGACCTCA
NM_001393444.1:c.319-209_319-208insCTCTACACTGACCTCA (ANAPC15)	NP_001380373.1:n.319-209_319-208insCTCTACACTGACCTCA
NM_001393445.1:c.319-209_319-208insCTCTACACTGACCTCA (ANAPC15)	NP_001380374.1:n.319-209_319-208insCTCTACACTGACCTCA
NM_001393459.1:c.63+1004_63+1005insCTCTACACTGACCTCA (ANAPC15)	NP_001380388.1:n.63+1004_63+1005insCTCTACACTGACCTCA
NM_001393500.1:c.*158_*159insTGAGGTCAGTGTAGAG (TOMT)	NP_001380429.1:n.*158_*159insTGAGGTCAGTGTAGAG
NR_171687.1:n.567+145_567+146insCTCTACACTGACCTCA (ANAPC15)
NM_001393500.2:c.*158_*159insTGAGGTCAGTGTAGAG (TOMT) MANE Select	NP_001380429.1:n.*158_*159insTGAGGTCAGTGTAGAG