Canonical Allele Identifier: CA2839461531

Gene: TOMT LRTOMT LRRC51 ANAPC15

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72108637del , CM000673.2:g.72108637del	GRCh38
NC_000011.9:g.71819683del , CM000673.1:g.71819683del	GRCh37
NC_000011.8:g.71497331del	NCBI36
NG_021423.1:g.33302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.489del (TOMT) MANE Select	ENSP00000494667.1:p.Ile164SerfsTer10
ENST00000541899.2:c.489del (TOMT)	ENSP00000494667.1:p.Ile164SerfsTer10
ENST00000643715.1:c.470del (LRTOMT)	ENSP00000496019.1:p.Ter157TyrextTer?
ENST00000307198.11:c.588del (LRRC51)	ENSP00000305742.7:p.Ile197SerfsTer10
ENST00000419228.2:c.467del (LRRC51)	ENSP00000392233.2:p.Ter156TyrextTer?
ENST00000427369.6:c.*307del (LRRC51)	ENSP00000409403.2:n.*307del
ENST00000435085.5:c.588del (LRRC51)	ENSP00000409789.1:p.Ile197SerfsTer10
ENST00000439209.5:c.470del (LRRC51)	ENSP00000395139.1:p.Ter157TyrextTer?
ENST00000502597.2:c.64-1032del (ANAPC15)	ENSP00000441774.1:n.64-1032del
ENST00000543050.5:c.319-1032del (ANAPC15)	ENSP00000437360.1:n.319-1032del
ENST00000544409.5:c.*307del (LRRC51)	ENSP00000440969.1:n.*307del
NM_001145308.4:c.588del (LRTOMT)	NP_001138780.1:p.Ile197SerfsTer10
NM_001145309.3:c.588del (LRTOMT)	NP_001138781.1:p.Ile197SerfsTer10
NM_001145310.3:c.468del (LRTOMT)	NP_001138782.1:p.Ile157SerfsTer10
XM_011544849.1:c.813del (LRTOMT)	XP_011543151.1:p.Ile272SerfsTer10
NM_001330321.1:c.319-1032del (ANAPC15)	NP_001317250.1:n.319-1032del
XM_024448401.1:c.813del (LRTOMT)	XP_024304169.1:p.Ile272SerfsTer10
NM_001145308.5:c.588del (LRTOMT)	NP_001138780.1:p.Ile197SerfsTer10
NM_001145309.4:c.588del (LRTOMT)	NP_001138781.1:p.Ile197SerfsTer10
NM_001145310.4:c.468del (LRTOMT)	NP_001138782.1:p.Ile157SerfsTer10
NM_001330321.2:c.319-1032del (ANAPC15)	NP_001317250.1:n.319-1032del
NM_001393427.1:c.319-1032del (ANAPC15)	NP_001380356.1:n.319-1032del
NM_001393428.1:c.319-1032del (ANAPC15)	NP_001380357.1:n.319-1032del
NM_001393429.1:c.319-1032del (ANAPC15)	NP_001380358.1:n.319-1032del
NM_001393430.1:c.319-1032del (ANAPC15)	NP_001380359.1:n.319-1032del
NM_001393431.1:c.319-1032del (ANAPC15)	NP_001380360.1:n.319-1032del
NM_001393443.1:c.*182del (ANAPC15)	NP_001380372.1:n.*182del
NM_001393444.1:c.*182del (ANAPC15)	NP_001380373.1:n.*182del
NM_001393445.1:c.*182del (ANAPC15)	NP_001380374.1:n.*182del
NM_001393459.1:c.64-1032del (ANAPC15)	NP_001380388.1:n.64-1032del
NM_001393500.1:c.489del (TOMT)	NP_001380429.1:p.Ile164SerfsTer10
NR_171687.1:n.806del (ANAPC15)
NM_001393500.2:c.489del (TOMT) MANE Select	NP_001380429.1:p.Ile164SerfsTer10