Canonical Allele Identifier: CA2614917621

Gene: TOMT LRTOMT LRRC51

Linked Data

• gnomAD v4: 11-72106132-GACCCTGGTCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106134_72106144del , CM000673.2:g.72106134_72106144del	GRCh38
NC_000011.9:g.71817180_71817190del , CM000673.1:g.71817180_71817190del	GRCh37
NC_000011.8:g.71494828_71494838del	NCBI36
NG_021423.1:g.30799_30809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.183_193del (TOMT) MANE Select	ENSP00000494667.1:p.Gly63HisfsTer?
ENST00000541899.2:c.183_193del (TOMT)	ENSP00000494667.1:p.Gly63HisfsTer?
ENST00000643715.1:c.438-2471_438-2461del (LRTOMT)	ENSP00000496019.1:n.438-2471_438-2461del
ENST00000646163.1:c.*1_*11del (LRTOMT)	ENSP00000494749.1:n.*1_*11del
ENST00000307198.11:c.282_292del (LRRC51)	ENSP00000305742.7:p.Gly96HisfsTer?
ENST00000419228.2:c.162_172del (LRRC51)	ENSP00000392233.2:p.Gly56HisfsTer?
ENST00000427369.6:c.*1_*11del (LRRC51)	ENSP00000409403.2:n.*1_*11del
ENST00000435085.5:c.282_292del (LRRC51)	ENSP00000409789.1:p.Gly96HisfsTer?
ENST00000439209.5:c.438-2471_438-2461del (LRRC51)	ENSP00000395139.1:n.438-2471_438-2461del
ENST00000541899.1:n.340_350del (LRRC51)
ENST00000544409.5:c.*1_*11del (LRRC51)	ENSP00000440969.1:n.*1_*11del
NM_001145308.4:c.282_292del (LRTOMT)	NP_001138780.1:p.Gly96HisfsTer?
NM_001145309.3:c.282_292del (LRTOMT)	NP_001138781.1:p.Gly96HisfsTer?
NM_001145310.3:c.162_172del (LRTOMT)	NP_001138782.1:p.Gly56HisfsTer?
XM_011544849.1:c.507_517del (LRTOMT)	XP_011543151.1:p.Gly171HisfsTer?
XM_024448401.1:c.507_517del (LRTOMT)	XP_024304169.1:p.Gly171HisfsTer?
NM_001145308.5:c.282_292del (LRTOMT)	NP_001138780.1:p.Gly96HisfsTer?
NM_001145309.4:c.282_292del (LRTOMT)	NP_001138781.1:p.Gly96HisfsTer?
NM_001145310.4:c.162_172del (LRTOMT)	NP_001138782.1:p.Gly56HisfsTer?
NM_001393500.1:c.183_193del (TOMT)	NP_001380429.1:p.Gly63HisfsTer?
NM_001393500.2:c.183_193del (TOMT) MANE Select	NP_001380429.1:p.Gly63HisfsTer?