Canonical Allele Identifier: CA2840339058

Gene: TOMT LRTOMT LRRC51

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72105998dup , CM000673.2:g.72105998dup	GRCh38
NC_000011.9:g.71817044dup , CM000673.1:g.71817044dup	GRCh37
NC_000011.8:g.71494692dup	NCBI36
NG_021423.1:g.30663dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.47dup (TOMT) MANE Select	ENSP00000494667.1:p.Leu16PhefsTer?
ENST00000541899.2:c.47dup (TOMT)	ENSP00000494667.1:p.Leu16PhefsTer?
ENST00000643715.1:c.438-2607dup (LRTOMT)	ENSP00000496019.1:n.438-2607dup
ENST00000646163.1:c.73-58dup (LRTOMT)	ENSP00000494749.1:n.73-58dup
ENST00000307198.11:c.146dup (LRRC51)	ENSP00000305742.7:p.Leu49PhefsTer?
ENST00000419228.2:c.84-58dup (LRRC51)	ENSP00000392233.2:n.84-58dup
ENST00000427369.6:c.549dup (LRRC51)	ENSP00000409403.2:p.Ala184CysfsTer?
ENST00000435085.5:c.146dup (LRRC51)	ENSP00000409789.1:p.Leu49PhefsTer?
ENST00000439209.5:c.438-2607dup (LRRC51)	ENSP00000395139.1:n.438-2607dup
ENST00000541899.1:n.204dup (LRRC51)
ENST00000544409.5:c.487-58dup (LRRC51)	ENSP00000440969.1:n.487-58dup
NM_001145308.4:c.146dup (LRTOMT)	NP_001138780.1:p.Leu49PhefsTer?
NM_001145309.3:c.146dup (LRTOMT)	NP_001138781.1:p.Leu49PhefsTer?
NM_001145310.3:c.84-58dup (LRTOMT)	NP_001138782.1:n.84-58dup
XM_011544849.1:c.371dup (LRTOMT)	XP_011543151.1:p.Leu124PhefsTer?
XM_024448401.1:c.371dup (LRTOMT)	XP_024304169.1:p.Leu124PhefsTer?
NM_001145308.5:c.146dup (LRTOMT)	NP_001138780.1:p.Leu49PhefsTer?
NM_001145309.4:c.146dup (LRTOMT)	NP_001138781.1:p.Leu49PhefsTer?
NM_001145310.4:c.84-58dup (LRTOMT)	NP_001138782.1:n.84-58dup
NM_001393500.1:c.47dup (TOMT)	NP_001380429.1:p.Leu16PhefsTer?
NM_001393500.2:c.47dup (TOMT) MANE Select	NP_001380429.1:p.Leu16PhefsTer?