Canonical Allele Identifier: CA939424926

Gene: TOMT LRTOMT LRRC51 ANAPC15

Linked Data

• gnomAD v3: 11-72108976-CAGGGA-C
• gnomAD v4: 11-72108976-CAGGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72108977_72108981del , CM000673.2:g.72108977_72108981del	GRCh38
NC_000011.9:g.71820023_71820027del , CM000673.1:g.71820023_71820027del	GRCh37
NC_000011.8:g.71497671_71497675del	NCBI36
NG_021423.1:g.33642_33646del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.*52_*56del (TOMT) MANE Select	ENSP00000494667.1:n.*52_*56del
ENST00000541899.2:c.*52_*56del (TOMT)	ENSP00000494667.1:n.*52_*56del
ENST00000643715.1:c.*339_*343del (LRTOMT)	ENSP00000496019.1:n.*339_*343del
ENST00000307198.11:c.*52_*56del (LRRC51)	ENSP00000305742.7:n.*52_*56del
ENST00000419228.2:c.*339_*343del (LRRC51)	ENSP00000392233.2:n.*339_*343del
ENST00000427369.6:c.*647_*651del (LRRC51)	ENSP00000409403.2:n.*647_*651del
ENST00000435085.5:c.*52_*56del (LRRC51)	ENSP00000409789.1:n.*52_*56del
ENST00000502597.2:c.63+1107_63+1111del (ANAPC15)	ENSP00000441774.1:n.63+1107_63+1111del
ENST00000538117.5:c.*99-106_*99-102del (ANAPC15)	ENSP00000445212.1:n.*99-106_*99-102del
ENST00000543050.5:c.318+1107_318+1111del (ANAPC15)	ENSP00000437360.1:n.318+1107_318+1111del
ENST00000544409.5:c.*647_*651del (LRRC51)	ENSP00000440969.1:n.*647_*651del
NM_001145308.4:c.*52_*56del (LRTOMT)	NP_001138780.1:n.*52_*56del
NM_001145309.3:c.*52_*56del (LRTOMT)	NP_001138781.1:n.*52_*56del
NM_001145310.3:c.*52_*56del (LRTOMT)	NP_001138782.1:n.*52_*56del
XM_011544849.1:c.1153_1157del (LRTOMT)	XP_011543151.1:n.1153_1157del
NM_001330321.1:c.318+1107_318+1111del (ANAPC15)	NP_001317250.1:n.318+1107_318+1111del
XM_024448401.1:c.1153_1157del (LRTOMT)	XP_024304169.1:n.1153_1157del
NM_001145308.5:c.*52_*56del (LRTOMT)	NP_001138780.1:n.*52_*56del
NM_001145309.4:c.*52_*56del (LRTOMT)	NP_001138781.1:n.*52_*56del
NM_001145310.4:c.*52_*56del (LRTOMT)	NP_001138782.1:n.*52_*56del
NM_001330321.2:c.318+1107_318+1111del (ANAPC15)	NP_001317250.1:n.318+1107_318+1111del
NM_001393427.1:c.318+1107_318+1111del (ANAPC15)	NP_001380356.1:n.318+1107_318+1111del
NM_001393428.1:c.318+1107_318+1111del (ANAPC15)	NP_001380357.1:n.318+1107_318+1111del
NM_001393429.1:c.318+1107_318+1111del (ANAPC15)	NP_001380358.1:n.318+1107_318+1111del
NM_001393430.1:c.318+1107_318+1111del (ANAPC15)	NP_001380359.1:n.318+1107_318+1111del
NM_001393431.1:c.318+1107_318+1111del (ANAPC15)	NP_001380360.1:n.318+1107_318+1111del
NM_001393443.1:c.319-106_319-102del (ANAPC15)	NP_001380372.1:n.319-106_319-102del
NM_001393444.1:c.319-106_319-102del (ANAPC15)	NP_001380373.1:n.319-106_319-102del
NM_001393445.1:c.319-106_319-102del (ANAPC15)	NP_001380374.1:n.319-106_319-102del
NM_001393459.1:c.63+1107_63+1111del (ANAPC15)	NP_001380388.1:n.63+1107_63+1111del
NM_001393500.1:c.*52_*56del (TOMT)	NP_001380429.1:n.*52_*56del
NR_171687.1:n.568-106_568-102del (ANAPC15)
NM_001393500.2:c.*52_*56del (TOMT) MANE Select	NP_001380429.1:n.*52_*56del