Canonical Allele Identifier: CA2614917662

Gene: TOMT LRTOMT LRRC51

Linked Data

• gnomAD v4: 11-72106157-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106159del , CM000673.2:g.72106159del	GRCh38
NC_000011.9:g.71817205del , CM000673.1:g.71817205del	GRCh37
NC_000011.8:g.71494853del	NCBI36
NG_021423.1:g.30824del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.208del (TOMT) MANE Select	ENSP00000494667.1:p.Asp70ThrfsTer10
ENST00000541899.2:c.208del (TOMT)	ENSP00000494667.1:p.Asp70ThrfsTer10
ENST00000643715.1:c.438-2446del (LRTOMT)	ENSP00000496019.1:n.438-2446del
ENST00000646163.1:c.*26del (LRTOMT)	ENSP00000494749.1:n.*26del
ENST00000307198.11:c.307del (LRRC51)	ENSP00000305742.7:p.Asp103ThrfsTer10
ENST00000419228.2:c.187del (LRRC51)	ENSP00000392233.2:p.Asp63ThrfsTer10
ENST00000427369.6:c.*26del (LRRC51)	ENSP00000409403.2:n.*26del
ENST00000435085.5:c.307del (LRRC51)	ENSP00000409789.1:p.Asp103ThrfsTer10
ENST00000439209.5:c.438-2446del (LRRC51)	ENSP00000395139.1:n.438-2446del
ENST00000541899.1:n.365del (LRRC51)
ENST00000544409.5:c.*26del (LRRC51)	ENSP00000440969.1:n.*26del
NM_001145308.4:c.307del (LRTOMT)	NP_001138780.1:p.Asp103ThrfsTer10
NM_001145309.3:c.307del (LRTOMT)	NP_001138781.1:p.Asp103ThrfsTer10
NM_001145310.3:c.187del (LRTOMT)	NP_001138782.1:p.Asp63ThrfsTer10
XM_011544849.1:c.532del (LRTOMT)	XP_011543151.1:p.Asp178ThrfsTer10
XM_024448401.1:c.532del (LRTOMT)	XP_024304169.1:p.Asp178ThrfsTer10
NM_001145308.5:c.307del (LRTOMT)	NP_001138780.1:p.Asp103ThrfsTer10
NM_001145309.4:c.307del (LRTOMT)	NP_001138781.1:p.Asp103ThrfsTer10
NM_001145310.4:c.187del (LRTOMT)	NP_001138782.1:p.Asp63ThrfsTer10
NM_001393500.1:c.208del (TOMT)	NP_001380429.1:p.Asp70ThrfsTer10
NM_001393500.2:c.208del (TOMT) MANE Select	NP_001380429.1:p.Asp70ThrfsTer10