Canonical Allele Identifier: CA2839651607

Gene: TOMT LRTOMT LRRC51

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106083dup , CM000673.2:g.72106083dup	GRCh38
NC_000011.9:g.71817129dup , CM000673.1:g.71817129dup	GRCh37
NC_000011.8:g.71494777dup	NCBI36
NG_021423.1:g.30748dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.132dup (TOMT) MANE Select	ENSP00000494667.1:p.Ile45AspfsTer17
ENST00000541899.2:c.132dup (TOMT)	ENSP00000494667.1:p.Ile45AspfsTer17
ENST00000643715.1:c.438-2522dup (LRTOMT)	ENSP00000496019.1:n.438-2522dup
ENST00000646163.1:c.100dup (LRTOMT)	ENSP00000494749.1:p.Asp34GlyfsTer?
ENST00000307198.11:c.231dup (LRRC51)	ENSP00000305742.7:p.Ile78AspfsTer17
ENST00000419228.2:c.111dup (LRRC51)	ENSP00000392233.2:p.Ile38AspfsTer17
ENST00000427369.6:c.634dup (LRRC51)	ENSP00000409403.2:p.Asp212GlyfsTer?
ENST00000435085.5:c.231dup (LRRC51)	ENSP00000409789.1:p.Ile78AspfsTer17
ENST00000439209.5:c.438-2522dup (LRRC51)	ENSP00000395139.1:n.438-2522dup
ENST00000541899.1:n.289dup (LRRC51)
ENST00000544409.5:c.514dup (LRRC51)	ENSP00000440969.1:p.Asp172GlyfsTer?
NM_001145308.4:c.231dup (LRTOMT)	NP_001138780.1:p.Ile78AspfsTer17
NM_001145309.3:c.231dup (LRTOMT)	NP_001138781.1:p.Ile78AspfsTer17
NM_001145310.3:c.111dup (LRTOMT)	NP_001138782.1:p.Ile38AspfsTer17
XM_011544849.1:c.456dup (LRTOMT)	XP_011543151.1:p.Ile153AspfsTer17
XM_024448401.1:c.456dup (LRTOMT)	XP_024304169.1:p.Ile153AspfsTer17
NM_001145308.5:c.231dup (LRTOMT)	NP_001138780.1:p.Ile78AspfsTer17
NM_001145309.4:c.231dup (LRTOMT)	NP_001138781.1:p.Ile78AspfsTer17
NM_001145310.4:c.111dup (LRTOMT)	NP_001138782.1:p.Ile38AspfsTer17
NM_001393500.1:c.132dup (TOMT)	NP_001380429.1:p.Ile45AspfsTer17
NM_001393500.2:c.132dup (TOMT) MANE Select	NP_001380429.1:p.Ile45AspfsTer17