Canonical Allele Identifier: CA2614917866

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72106261_72106266dup , CM000673.2:g.72106261_72106266dup GRCh38
NC_000011.9:g.71817307_71817312dup , CM000673.1:g.71817307_71817312dup GRCh37
NC_000011.8:g.71494955_71494960dup NCBI36
NG_021423.1:g.30926_30931dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000541899.3:c.259+51_259+56dup (TOMT) MANE Select ENSP00000494667.1:n.259+51_259+56dup
ENST00000541899.2:c.259+51_259+56dup (TOMT) ENSP00000494667.1:n.259+51_259+56dup
ENST00000643715.1:c.438-2344_438-2339dup (LRTOMT) ENSP00000496019.1:n.438-2344_438-2339dup
ENST00000646163.1:c.*77+51_*77+56dup (LRTOMT) ENSP00000494749.1:n.*77+51_*77+56dup
ENST00000307198.11:c.358+51_358+56dup (LRRC51) ENSP00000305742.7:n.358+51_358+56dup
ENST00000419228.2:c.238+51_238+56dup (LRRC51) ENSP00000392233.2:n.238+51_238+56dup
ENST00000427369.6:c.*77+51_*77+56dup (LRRC51) ENSP00000409403.2:n.*77+51_*77+56dup
ENST00000435085.5:c.358+51_358+56dup (LRRC51) ENSP00000409789.1:n.358+51_358+56dup
ENST00000439209.5:c.438-2344_438-2339dup (LRRC51) ENSP00000395139.1:n.438-2344_438-2339dup
ENST00000541899.1:n.416+51_416+56dup (LRRC51)
ENST00000544409.5:c.*77+51_*77+56dup (LRRC51) ENSP00000440969.1:n.*77+51_*77+56dup
NM_001145308.4:c.358+51_358+56dup (LRTOMT) NP_001138780.1:n.358+51_358+56dup
NM_001145309.3:c.358+51_358+56dup (LRTOMT) NP_001138781.1:n.358+51_358+56dup
NM_001145310.3:c.238+51_238+56dup (LRTOMT) NP_001138782.1:n.238+51_238+56dup
XM_011544849.1:c.583+51_583+56dup (LRTOMT) XP_011543151.1:n.583+51_583+56dup
XM_024448401.1:c.583+51_583+56dup (LRTOMT) XP_024304169.1:n.583+51_583+56dup
NM_001145308.5:c.358+51_358+56dup (LRTOMT) NP_001138780.1:n.358+51_358+56dup
NM_001145309.4:c.358+51_358+56dup (LRTOMT) NP_001138781.1:n.358+51_358+56dup
NM_001145310.4:c.238+51_238+56dup (LRTOMT) NP_001138782.1:n.238+51_238+56dup
NM_001393500.1:c.259+51_259+56dup (TOMT) NP_001380429.1:n.259+51_259+56dup
NM_001393500.2:c.259+51_259+56dup (TOMT) MANE Select NP_001380429.1:n.259+51_259+56dup