Canonical Allele Identifier: CA2824506872
Gene: TBL1Y HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7044966_7044973del , CM000686.2:g.7044966_7044973del GRCh38
NC_000024.9:g.6913007_6913014del , CM000686.1:g.6913007_6913014del GRCh37
NC_000024.8:g.6973007_6973014del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000383032.6:c.204+1841_204+1848del MANE Select ENSP00000372499.1:n.204+1841_204+1848del
ENST00000346432.3:c.204+1841_204+1848del ENSP00000328879.4:n.204+1841_204+1848del
ENST00000355162.6:c.204+1841_204+1848del ENSP00000347289.2:n.204+1841_204+1848del
ENST00000383032.5:c.204+1841_204+1848del ENSP00000372499.1:n.204+1841_204+1848del
NM_033284.1:c.204+1841_204+1848del NP_150600.1:n.204+1841_204+1848del
NM_134258.1:c.204+1841_204+1848del NP_599020.1:n.204+1841_204+1848del
NM_134259.1:c.204+1841_204+1848del NP_599021.1:n.204+1841_204+1848del
XM_005262572.2:c.246+1841_246+1848del XP_005262629.1:n.246+1841_246+1848del
XM_005262572.3:c.246+1841_246+1848del XP_005262629.1:n.246+1841_246+1848del
XM_017030086.1:c.204+1841_204+1848del XP_016885575.1:n.204+1841_204+1848del
XM_017030087.1:c.204+1841_204+1848del XP_016885576.1:n.204+1841_204+1848del
XM_024452497.1:c.204+1841_204+1848del XP_024308265.1:n.204+1841_204+1848del
NM_033284.2:c.204+1841_204+1848del MANE Select NP_150600.1:n.204+1841_204+1848del
NM_134258.2:c.204+1841_204+1848del NP_599020.1:n.204+1841_204+1848del
NM_134259.2:c.204+1841_204+1848del NP_599021.1:n.204+1841_204+1848del