Canonical Allele Identifier: CA600242549

Gene: TOMT LRTOMT LRRC51

Linked Data

• dbSNP Id: rs1275894867
• gnomAD v2: 11-71817079-GTGC-G
• MyVariant Identifiers: chr11:g.71817080_71817082del (hg19) ; chr11:g.72106034_72106036del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106034_72106036del , CM000673.2:g.72106034_72106036del	GRCh38
NC_000011.9:g.71817080_71817082del , CM000673.1:g.71817080_71817082del	GRCh37
NC_000011.8:g.71494728_71494730del	NCBI36
NG_021423.1:g.30699_30701del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.83_85del (TOMT) MANE Select	ENSP00000494667.1:p.Val28_Arg29delinsGly
ENST00000541899.2:c.83_85del (TOMT)	ENSP00000494667.1:p.Val28_Arg29delinsGly
ENST00000643715.1:c.438-2571_438-2569del (LRTOMT)	ENSP00000496019.1:n.438-2571_438-2569del
ENST00000646163.1:c.73-22_73-20del (LRTOMT)	ENSP00000494749.1:n.73-22_73-20del
ENST00000307198.11:c.182_184del (LRRC51)	ENSP00000305742.7:p.Val61_Arg62delinsGly
ENST00000419228.2:c.84-22_84-20del (LRRC51)	ENSP00000392233.2:n.84-22_84-20del
ENST00000427369.6:c.585_587del (LRRC51)	ENSP00000409403.2:p.Ala196del
ENST00000435085.5:c.182_184del (LRRC51)	ENSP00000409789.1:p.Val61_Arg62delinsGly
ENST00000439209.5:c.438-2571_438-2569del (LRRC51)	ENSP00000395139.1:n.438-2571_438-2569del
ENST00000541899.1:n.240_242del (LRRC51)
ENST00000544409.5:c.487-22_487-20del (LRRC51)	ENSP00000440969.1:n.487-22_487-20del
NM_001145308.4:c.182_184del (LRTOMT)	NP_001138780.1:p.Val61_Arg62delinsGly
NM_001145309.3:c.182_184del (LRTOMT)	NP_001138781.1:p.Val61_Arg62delinsGly
NM_001145310.3:c.84-22_84-20del (LRTOMT)	NP_001138782.1:n.84-22_84-20del
XM_011544849.1:c.407_409del (LRTOMT)	XP_011543151.1:p.Val136_Arg137delinsGly
XM_024448401.1:c.407_409del (LRTOMT)	XP_024304169.1:p.Val136_Arg137delinsGly
NM_001145308.5:c.182_184del (LRTOMT)	NP_001138780.1:p.Val61_Arg62delinsGly
NM_001145309.4:c.182_184del (LRTOMT)	NP_001138781.1:p.Val61_Arg62delinsGly
NM_001145310.4:c.84-22_84-20del (LRTOMT)	NP_001138782.1:n.84-22_84-20del
NM_001393500.1:c.83_85del (TOMT)	NP_001380429.1:p.Val28_Arg29delinsGly
NM_001393500.2:c.83_85del (TOMT) MANE Select	NP_001380429.1:p.Val28_Arg29delinsGly