Canonical Allele Identifier: CA2695214940

Gene: TOMT LRTOMT LRRC51

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106003dup , CM000673.2:g.72106003dup	GRCh38
NC_000011.9:g.71817049dup , CM000673.1:g.71817049dup	GRCh37
NC_000011.8:g.71494697dup	NCBI36
NG_021423.1:g.30668dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.52dup (TOMT) MANE Select	ENSP00000494667.1:p.Val18GlyfsTer?
ENST00000541899.2:c.52dup (TOMT)	ENSP00000494667.1:p.Val18GlyfsTer?
ENST00000643715.1:c.438-2602dup (LRTOMT)	ENSP00000496019.1:n.438-2602dup
ENST00000646163.1:c.73-53dup (LRTOMT)	ENSP00000494749.1:n.73-53dup
ENST00000307198.11:c.151dup (LRRC51)	ENSP00000305742.7:p.Val51GlyfsTer?
ENST00000419228.2:c.84-53dup (LRRC51)	ENSP00000392233.2:n.84-53dup
ENST00000427369.6:c.554dup (LRRC51)	ENSP00000409403.2:p.Ala186CysfsTer?
ENST00000435085.5:c.151dup (LRRC51)	ENSP00000409789.1:p.Val51GlyfsTer?
ENST00000439209.5:c.438-2602dup (LRRC51)	ENSP00000395139.1:n.438-2602dup
ENST00000541899.1:n.209dup (LRRC51)
ENST00000544409.5:c.487-53dup (LRRC51)	ENSP00000440969.1:n.487-53dup
NM_001145308.4:c.151dup (LRTOMT)	NP_001138780.1:p.Val51GlyfsTer?
NM_001145309.3:c.151dup (LRTOMT)	NP_001138781.1:p.Val51GlyfsTer?
NM_001145310.3:c.84-53dup (LRTOMT)	NP_001138782.1:n.84-53dup
XM_011544849.1:c.376dup (LRTOMT)	XP_011543151.1:p.Val126GlyfsTer?
XM_024448401.1:c.376dup (LRTOMT)	XP_024304169.1:p.Val126GlyfsTer?
NM_001145308.5:c.151dup (LRTOMT)	NP_001138780.1:p.Val51GlyfsTer?
NM_001145309.4:c.151dup (LRTOMT)	NP_001138781.1:p.Val51GlyfsTer?
NM_001145310.4:c.84-53dup (LRTOMT)	NP_001138782.1:n.84-53dup
NM_001393500.1:c.52dup (TOMT)	NP_001380429.1:p.Val18GlyfsTer?
NM_001393500.2:c.52dup (TOMT) MANE Select	NP_001380429.1:p.Val18GlyfsTer?