Canonical Allele Identifier: CA2839461530

Gene: TOMT LRTOMT LRRC51 ANAPC15

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72108616_72108617insT , CM000673.2:g.72108616_72108617insT	GRCh38
NC_000011.9:g.71819662_71819663insT , CM000673.1:g.71819662_71819663insT	GRCh37
NC_000011.8:g.71497310_71497311insT	NCBI36
NG_021423.1:g.33281_33282insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.468_469insT (TOMT) MANE Select	ENSP00000494667.1:p.Val157CysfsTer?
ENST00000541899.2:c.468_469insT (TOMT)	ENSP00000494667.1:p.Val157CysfsTer?
ENST00000643715.1:c.449_450insT (LRTOMT)	ENSP00000496019.1:p.Trp151ValfsTer?
ENST00000307198.11:c.567_568insT (LRRC51)	ENSP00000305742.7:p.Val190CysfsTer?
ENST00000419228.2:c.446_447insT (LRRC51)	ENSP00000392233.2:p.Trp150ValfsTer?
ENST00000427369.6:c.*286_*287insT (LRRC51)	ENSP00000409403.2:n.*286_*287insT
ENST00000435085.5:c.567_568insT (LRRC51)	ENSP00000409789.1:p.Val190CysfsTer?
ENST00000439209.5:c.449_450insT (LRRC51)	ENSP00000395139.1:p.Trp151ValfsTer?
ENST00000502597.2:c.64-1012_64-1011insA (ANAPC15)	ENSP00000441774.1:n.64-1012_64-1011insA
ENST00000543050.5:c.319-1012_319-1011insA (ANAPC15)	ENSP00000437360.1:n.319-1012_319-1011insA
ENST00000544409.5:c.*286_*287insT (LRRC51)	ENSP00000440969.1:n.*286_*287insT
NM_001145308.4:c.567_568insT (LRTOMT)	NP_001138780.1:p.Val190CysfsTer?
NM_001145309.3:c.567_568insT (LRTOMT)	NP_001138781.1:p.Val190CysfsTer?
NM_001145310.3:c.447_448insT (LRTOMT)	NP_001138782.1:p.Val150CysfsTer?
XM_011544849.1:c.792_793insT (LRTOMT)	XP_011543151.1:p.Val265CysfsTer?
NM_001330321.1:c.319-1012_319-1011insA (ANAPC15)	NP_001317250.1:n.319-1012_319-1011insA
XM_024448401.1:c.792_793insT (LRTOMT)	XP_024304169.1:p.Val265CysfsTer?
NM_001145308.5:c.567_568insT (LRTOMT)	NP_001138780.1:p.Val190CysfsTer?
NM_001145309.4:c.567_568insT (LRTOMT)	NP_001138781.1:p.Val190CysfsTer?
NM_001145310.4:c.447_448insT (LRTOMT)	NP_001138782.1:p.Val150CysfsTer?
NM_001330321.2:c.319-1012_319-1011insA (ANAPC15)	NP_001317250.1:n.319-1012_319-1011insA
NM_001393427.1:c.319-1012_319-1011insA (ANAPC15)	NP_001380356.1:n.319-1012_319-1011insA
NM_001393428.1:c.319-1012_319-1011insA (ANAPC15)	NP_001380357.1:n.319-1012_319-1011insA
NM_001393429.1:c.319-1012_319-1011insA (ANAPC15)	NP_001380358.1:n.319-1012_319-1011insA
NM_001393430.1:c.319-1012_319-1011insA (ANAPC15)	NP_001380359.1:n.319-1012_319-1011insA
NM_001393431.1:c.319-1012_319-1011insA (ANAPC15)	NP_001380360.1:n.319-1012_319-1011insA
NM_001393443.1:c.*202_*203insA (ANAPC15)	NP_001380372.1:n.*202_*203insA
NM_001393444.1:c.*202_*203insA (ANAPC15)	NP_001380373.1:n.*202_*203insA
NM_001393445.1:c.*202_*203insA (ANAPC15)	NP_001380374.1:n.*202_*203insA
NM_001393459.1:c.64-1012_64-1011insA (ANAPC15)	NP_001380388.1:n.64-1012_64-1011insA
NM_001393500.1:c.468_469insT (TOMT)	NP_001380429.1:p.Val157CysfsTer?
NR_171687.1:n.826_827insA (ANAPC15)
NM_001393500.2:c.468_469insT (TOMT) MANE Select	NP_001380429.1:p.Val157CysfsTer?