Canonical Allele Identifier: CA600075846
Gene: TOMT HGNC NCBI
LRTOMT HGNC NCBI
LRRC51 HGNC NCBI
ANAPC15 HGNC NCBI

Linked Data

dbSNP Id: rs1323996733
gnomAD v2: 11-71820018-CAAGCAGGGACCTCAAAAT-C
gnomAD v3: 11-72108972-CAAGCAGGGACCTCAAAAT-C
gnomAD v4: 11-72108972-CAAGCAGGGACCTCAAAAT-C
MyVariant Identifiers: chr11:g.71820019_71820036del (hg19) chr11:g.72108973_72108990del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72108973_72108990del , CM000673.2:g.72108973_72108990del GRCh38
NC_000011.9:g.71820019_71820036del , CM000673.1:g.71820019_71820036del GRCh37
NC_000011.8:g.71497667_71497684del NCBI36
NG_021423.1:g.33638_33655del

Transcript Alleles

HGVS Amino-acid Change
ENST00000541899.3:c.*48_*65del (TOMT) MANE Select ENSP00000494667.1:n.*48_*65del
ENST00000541899.2:c.*48_*65del (TOMT) ENSP00000494667.1:n.*48_*65del
ENST00000643715.1:c.*335_*352del (LRTOMT) ENSP00000496019.1:n.*335_*352del
ENST00000307198.11:c.*48_*65del (LRRC51) ENSP00000305742.7:n.*48_*65del
ENST00000419228.2:c.*335_*352del (LRRC51) ENSP00000392233.2:n.*335_*352del
ENST00000427369.6:c.*643_*660del (LRRC51) ENSP00000409403.2:n.*643_*660del
ENST00000435085.5:c.*48_*65del (LRRC51) ENSP00000409789.1:n.*48_*65del
ENST00000502597.2:c.63+1098_63+1115del (ANAPC15) ENSP00000441774.1:n.63+1098_63+1115del
ENST00000538117.5:c.*99-115_*99-98del (ANAPC15) ENSP00000445212.1:n.*99-115_*99-98del
ENST00000543050.5:c.318+1098_318+1115del (ANAPC15) ENSP00000437360.1:n.318+1098_318+1115del
ENST00000544409.5:c.*643_*660del (LRRC51) ENSP00000440969.1:n.*643_*660del
NM_001145308.4:c.*48_*65del (LRTOMT) NP_001138780.1:n.*48_*65del
NM_001145309.3:c.*48_*65del (LRTOMT) NP_001138781.1:n.*48_*65del
NM_001145310.3:c.*48_*65del (LRTOMT) NP_001138782.1:n.*48_*65del
XM_011544849.1:c.1149_1166del (LRTOMT) XP_011543151.1:n.1149_1166del
NM_001330321.1:c.318+1098_318+1115del (ANAPC15) NP_001317250.1:n.318+1098_318+1115del
XM_024448401.1:c.1149_1166del (LRTOMT) XP_024304169.1:n.1149_1166del
NM_001145308.5:c.*48_*65del (LRTOMT) NP_001138780.1:n.*48_*65del
NM_001145309.4:c.*48_*65del (LRTOMT) NP_001138781.1:n.*48_*65del
NM_001145310.4:c.*48_*65del (LRTOMT) NP_001138782.1:n.*48_*65del
NM_001330321.2:c.318+1098_318+1115del (ANAPC15) NP_001317250.1:n.318+1098_318+1115del
NM_001393427.1:c.318+1098_318+1115del (ANAPC15) NP_001380356.1:n.318+1098_318+1115del
NM_001393428.1:c.318+1098_318+1115del (ANAPC15) NP_001380357.1:n.318+1098_318+1115del
NM_001393429.1:c.318+1098_318+1115del (ANAPC15) NP_001380358.1:n.318+1098_318+1115del
NM_001393430.1:c.318+1098_318+1115del (ANAPC15) NP_001380359.1:n.318+1098_318+1115del
NM_001393431.1:c.318+1098_318+1115del (ANAPC15) NP_001380360.1:n.318+1098_318+1115del
NM_001393443.1:c.319-115_319-98del (ANAPC15) NP_001380372.1:n.319-115_319-98del
NM_001393444.1:c.319-115_319-98del (ANAPC15) NP_001380373.1:n.319-115_319-98del
NM_001393445.1:c.319-115_319-98del (ANAPC15) NP_001380374.1:n.319-115_319-98del
NM_001393459.1:c.63+1098_63+1115del (ANAPC15) NP_001380388.1:n.63+1098_63+1115del
NM_001393500.1:c.*48_*65del (TOMT) NP_001380429.1:n.*48_*65del
NR_171687.1:n.568-115_568-98del (ANAPC15)
NM_001393500.2:c.*48_*65del (TOMT) MANE Select NP_001380429.1:n.*48_*65del
Search 100 bp 5'
Search 100 bp 3'