Canonical Allele Identifier: CA600242547

Gene: TOMT LRTOMT LRRC51

Linked Data

• dbSNP Id: rs1180476718
• gnomAD v2: 11-71817035-TG-T
• gnomAD v4: 11-72105989-TG-T
• MyVariant Identifiers: chr11:g.71817036del (hg19) ; chr11:g.72105990del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72105991del , CM000673.2:g.72105991del	GRCh38
NC_000011.9:g.71817037del , CM000673.1:g.71817037del	GRCh37
NC_000011.8:g.71494685del	NCBI36
NG_021423.1:g.30656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.40del (TOMT) MANE Select	ENSP00000494667.1:p.Val14Ter
ENST00000541899.2:c.40del (TOMT)	ENSP00000494667.1:p.Val14Ter
ENST00000643715.1:c.438-2614del (LRTOMT)	ENSP00000496019.1:n.438-2614del
ENST00000646163.1:c.73-65del (LRTOMT)	ENSP00000494749.1:n.73-65del
ENST00000307198.11:c.139del (LRRC51)	ENSP00000305742.7:p.Val47Ter
ENST00000419228.2:c.84-65del (LRRC51)	ENSP00000392233.2:n.84-65del
ENST00000427369.6:c.542del (LRRC51)	ENSP00000409403.2:p.Gly181ValfsTer?
ENST00000435085.5:c.139del (LRRC51)	ENSP00000409789.1:p.Val47Ter
ENST00000439209.5:c.438-2614del (LRRC51)	ENSP00000395139.1:n.438-2614del
ENST00000541899.1:n.197del (LRRC51)
ENST00000544409.5:c.487-65del (LRRC51)	ENSP00000440969.1:n.487-65del
NM_001145308.4:c.139del (LRTOMT)	NP_001138780.1:p.Val47Ter
NM_001145309.3:c.139del (LRTOMT)	NP_001138781.1:p.Val47Ter
NM_001145310.3:c.84-65del (LRTOMT)	NP_001138782.1:n.84-65del
XM_011544849.1:c.364del (LRTOMT)	XP_011543151.1:p.Val122Ter
XM_024448401.1:c.364del (LRTOMT)	XP_024304169.1:p.Val122Ter
NM_001145308.5:c.139del (LRTOMT)	NP_001138780.1:p.Val47Ter
NM_001145309.4:c.139del (LRTOMT)	NP_001138781.1:p.Val47Ter
NM_001145310.4:c.84-65del (LRTOMT)	NP_001138782.1:n.84-65del
NM_001393500.1:c.40del (TOMT)	NP_001380429.1:p.Val14Ter
NM_001393500.2:c.40del (TOMT) MANE Select	NP_001380429.1:p.Val14Ter