Canonical Allele Identifier: CA600242551

Gene: TOMT LRTOMT LRRC51

Linked Data

• dbSNP Id: rs1565329875
• gnomAD v2: 11-71817139-CG-C
• gnomAD v4: 11-72106093-CG-C
• MyVariant Identifiers: chr11:g.71817140del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106096del , CM000673.2:g.72106096del	GRCh38
NC_000011.9:g.71817142del , CM000673.1:g.71817142del	GRCh37
NC_000011.8:g.71494790del	NCBI36
NG_021423.1:g.30761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.145del (TOMT) MANE Select	ENSP00000494667.1:p.Ala49ProfsTer?
ENST00000541899.2:c.145del (TOMT)	ENSP00000494667.1:p.Ala49ProfsTer?
ENST00000643715.1:c.438-2509del (LRTOMT)	ENSP00000496019.1:n.438-2509del
ENST00000646163.1:c.113del (LRTOMT)	ENSP00000494749.1:p.Gly38AlafsTer?
ENST00000307198.11:c.244del (LRRC51)	ENSP00000305742.7:p.Ala82ProfsTer?
ENST00000419228.2:c.124del (LRRC51)	ENSP00000392233.2:p.Ala42ProfsTer?
ENST00000427369.6:c.647del (LRRC51)	ENSP00000409403.2:p.Gly216AlafsTer?
ENST00000435085.5:c.244del (LRRC51)	ENSP00000409789.1:p.Ala82ProfsTer?
ENST00000439209.5:c.438-2509del (LRRC51)	ENSP00000395139.1:n.438-2509del
ENST00000541899.1:n.302del (LRRC51)
ENST00000544409.5:c.527del (LRRC51)	ENSP00000440969.1:p.Gly176AlafsTer?
NM_001145308.4:c.244del (LRTOMT)	NP_001138780.1:p.Ala82ProfsTer?
NM_001145309.3:c.244del (LRTOMT)	NP_001138781.1:p.Ala82ProfsTer?
NM_001145310.3:c.124del (LRTOMT)	NP_001138782.1:p.Ala42ProfsTer?
XM_011544849.1:c.469del (LRTOMT)	XP_011543151.1:p.Ala157ProfsTer?
XM_024448401.1:c.469del (LRTOMT)	XP_024304169.1:p.Ala157ProfsTer?
NM_001145308.5:c.244del (LRTOMT)	NP_001138780.1:p.Ala82ProfsTer?
NM_001145309.4:c.244del (LRTOMT)	NP_001138781.1:p.Ala82ProfsTer?
NM_001145310.4:c.124del (LRTOMT)	NP_001138782.1:p.Ala42ProfsTer?
NM_001393500.1:c.145del (TOMT)	NP_001380429.1:p.Ala49ProfsTer?
NM_001393500.2:c.145del (TOMT) MANE Select	NP_001380429.1:p.Ala49ProfsTer?