Canonical Allele Identifier: CA6168565

Gene: TOMT LRTOMT LRRC51

Linked Data

• ClinVar Variation Id: 1376047
• ClinVar RCV Id: RCV001885692
• dbSNP Id: rs769877492
• ExAC: 11:71816992 GGGACCATGTCCCCT / G
• gnomAD v2: 11-71816992-GGGACCATGTCCCCT-G
• gnomAD v3: 11-72105946-GGGACCATGTCCCCT-G
• gnomAD v4: 11-72105946-GGGACCATGTCCCCT-G
• MyVariant Identifiers: chr11:g.71816993_71817006del (hg19) ; chr11:g.72105947_72105960del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72105948_72105961del , CM000673.2:g.72105948_72105961del	GRCh38
NC_000011.9:g.71816994_71817007del , CM000673.1:g.71816994_71817007del	GRCh37
NC_000011.8:g.71494642_71494655del	NCBI36
NG_021423.1:g.30613_30626del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.-4_10del (TOMT)
ENST00000541899.2:c.-4_10del (TOMT)
ENST00000643715.1:c.438-2657_438-2644del (LRTOMT)	ENSP00000496019.1:n.438-2657_438-2644del
ENST00000646163.1:c.73-108_73-95del (LRTOMT)	ENSP00000494749.1:n.73-108_73-95del
ENST00000307198.11:c.96_109del (LRRC51)	ENSP00000305742.7:p.Thr33HisfsTer?
ENST00000419228.2:c.84-108_84-95del (LRRC51)	ENSP00000392233.2:n.84-108_84-95del
ENST00000427369.6:c.499_512del (LRRC51)	ENSP00000409403.2:p.Asp167ProfsTer11
ENST00000435085.5:c.96_109del (LRRC51)	ENSP00000409789.1:p.Thr33HisfsTer?
ENST00000439209.5:c.438-2657_438-2644del (LRRC51)	ENSP00000395139.1:n.438-2657_438-2644del
ENST00000541899.1:n.154_167del (LRRC51)
ENST00000544409.5:c.487-108_487-95del (LRRC51)	ENSP00000440969.1:n.487-108_487-95del
NM_001145308.4:c.96_109del (LRTOMT)	NP_001138780.1:p.Thr33HisfsTer?
NM_001145309.3:c.96_109del (LRTOMT)	NP_001138781.1:p.Thr33HisfsTer?
NM_001145310.3:c.84-108_84-95del (LRTOMT)	NP_001138782.1:n.84-108_84-95del
XM_011544849.1:c.321_334del (LRTOMT)	XP_011543151.1:p.Thr108HisfsTer?
XM_024448401.1:c.321_334del (LRTOMT)	XP_024304169.1:p.Thr108HisfsTer?
NM_001145308.5:c.96_109del (LRTOMT)	NP_001138780.1:p.Thr33HisfsTer?
NM_001145309.4:c.96_109del (LRTOMT)	NP_001138781.1:p.Thr33HisfsTer?
NM_001145310.4:c.84-108_84-95del (LRTOMT)	NP_001138782.1:n.84-108_84-95del
NM_001393500.1:c.-4_10del (TOMT)
NM_001393500.2:c.-4_10del (TOMT)