Canonical Allele Identifier: CA2695214939

Gene: TOMT LRTOMT LRRC51

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72105959del , CM000673.2:g.72105959del	GRCh38
NC_000011.9:g.71817005del , CM000673.1:g.71817005del	GRCh37
NC_000011.8:g.71494653del	NCBI36
NG_021423.1:g.30624del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.8del (TOMT) MANE Select	ENSP00000494667.1:p.Pro3LeufsTer12
ENST00000541899.2:c.8del (TOMT)	ENSP00000494667.1:p.Pro3LeufsTer12
ENST00000643715.1:c.438-2646del (LRTOMT)	ENSP00000496019.1:n.438-2646del
ENST00000646163.1:c.73-97del (LRTOMT)	ENSP00000494749.1:n.73-97del
ENST00000307198.11:c.107del (LRRC51)	ENSP00000305742.7:p.Pro36LeufsTer12
ENST00000419228.2:c.84-97del (LRRC51)	ENSP00000392233.2:n.84-97del
ENST00000427369.6:c.510del (LRRC51)	ENSP00000409403.2:p.Cys171AlafsTer?
ENST00000435085.5:c.107del (LRRC51)	ENSP00000409789.1:p.Pro36LeufsTer12
ENST00000439209.5:c.438-2646del (LRRC51)	ENSP00000395139.1:n.438-2646del
ENST00000541899.1:n.165del (LRRC51)
ENST00000544409.5:c.487-97del (LRRC51)	ENSP00000440969.1:n.487-97del
NM_001145308.4:c.107del (LRTOMT)	NP_001138780.1:p.Pro36LeufsTer12
NM_001145309.3:c.107del (LRTOMT)	NP_001138781.1:p.Pro36LeufsTer12
NM_001145310.3:c.84-97del (LRTOMT)	NP_001138782.1:n.84-97del
XM_011544849.1:c.332del (LRTOMT)	XP_011543151.1:p.Pro111LeufsTer12
XM_024448401.1:c.332del (LRTOMT)	XP_024304169.1:p.Pro111LeufsTer12
NM_001145308.5:c.107del (LRTOMT)	NP_001138780.1:p.Pro36LeufsTer12
NM_001145309.4:c.107del (LRTOMT)	NP_001138781.1:p.Pro36LeufsTer12
NM_001145310.4:c.84-97del (LRTOMT)	NP_001138782.1:n.84-97del
NM_001393500.1:c.8del (TOMT)	NP_001380429.1:p.Pro3LeufsTer12
NM_001393500.2:c.8del (TOMT) MANE Select	NP_001380429.1:p.Pro3LeufsTer12