Canonical Allele Identifier: CA1981839907

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72106093_72106094delinsCG , CM000673.2:g.72106093_72106094delinsCG GRCh38
NC_000011.9:g.71817139_71817140delinsCG , CM000673.1:g.71817139_71817140delinsCG GRCh37
NC_000011.8:g.71494787_71494788delinsCG NCBI36
NG_021423.1:g.30758_30759delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000541899.3:c.142_143delinsCG (TOMT) MANE Select ENSP00000494667.1:p.Arg48=
ENST00000541899.2:c.142_143delinsCG (TOMT) ENSP00000494667.1:p.Arg48=
ENST00000643715.1:c.438-2512_438-2511delinsCG (LRTOMT) ENSP00000496019.1:n.438-2512_438-2511delinsCG
ENST00000646163.1:c.110_111delinsCG (LRTOMT) ENSP00000494749.1:p.Ala37=
ENST00000307198.11:c.241_242delinsCG (LRRC51) ENSP00000305742.7:p.Arg81=
ENST00000419228.2:c.121_122delinsCG (LRRC51) ENSP00000392233.2:p.Arg41=
ENST00000427369.6:c.644_645delinsCG (LRRC51) ENSP00000409403.2:p.Ala215=
ENST00000435085.5:c.241_242delinsCG (LRRC51) ENSP00000409789.1:p.Arg81=
ENST00000439209.5:c.438-2512_438-2511delinsCG (LRRC51) ENSP00000395139.1:n.438-2512_438-2511delinsCG
ENST00000541899.1:n.299_300delinsCG (LRRC51)
ENST00000544409.5:c.524_525delinsCG (LRRC51) ENSP00000440969.1:p.Ala175=
NM_001145308.4:c.241_242delinsCG (LRTOMT) NP_001138780.1:p.Arg81=
NM_001145309.3:c.241_242delinsCG (LRTOMT) NP_001138781.1:p.Arg81=
NM_001145310.3:c.121_122delinsCG (LRTOMT) NP_001138782.1:p.Arg41=
XM_011544849.1:c.466_467delinsCG (LRTOMT) XP_011543151.1:p.Arg156=
XM_024448401.1:c.466_467delinsCG (LRTOMT) XP_024304169.1:p.Arg156=
NM_001145308.5:c.241_242delinsCG (LRTOMT) NP_001138780.1:p.Arg81=
NM_001145309.4:c.241_242delinsCG (LRTOMT) NP_001138781.1:p.Arg81=
NM_001145310.4:c.121_122delinsCG (LRTOMT) NP_001138782.1:p.Arg41=
NM_001393500.1:c.142_143delinsCG (TOMT) NP_001380429.1:p.Arg48=
NM_001393500.2:c.142_143delinsCG (TOMT) MANE Select NP_001380429.1:p.Arg48=