Canonical Allele Identifier: CA2563398878
Gene: TBL1Y HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6985292_6985294del , CM000686.2:g.6985292_6985294del GRCh38
NC_000024.9:g.6853333_6853335del , CM000686.1:g.6853333_6853335del GRCh37
NC_000024.8:g.6913333_6913335del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000383032.6:c.-235+7049_-235+7051del MANE Select ENSP00000372499.1:n.-235+7049_-235+7051del
ENST00000346432.3:c.-140+7049_-140+7051del ENSP00000328879.4:n.-140+7049_-140+7051del
ENST00000355162.6:c.-234-10512_-234-10510del ENSP00000347289.2:n.-234-10512_-234-10510del
ENST00000383032.5:c.-235+7049_-235+7051del ENSP00000372499.1:n.-235+7049_-235+7051del
NM_033284.1:c.-235+7049_-235+7051del NP_150600.1:n.-235+7049_-235+7051del
NM_134258.1:c.-234-10512_-234-10510del NP_599020.1:n.-234-10512_-234-10510del
NM_134259.1:c.-140+7049_-140+7051del NP_599021.1:n.-140+7049_-140+7051del
XM_017030086.1:c.-235+7049_-235+7051del XP_016885575.1:n.-235+7049_-235+7051del
XM_017030087.1:c.-235+7049_-235+7051del XP_016885576.1:n.-235+7049_-235+7051del
XM_024452497.1:c.-235+7049_-235+7051del XP_024308265.1:n.-235+7049_-235+7051del
NM_033284.2:c.-235+7049_-235+7051del MANE Select NP_150600.1:n.-235+7049_-235+7051del
NM_134258.2:c.-234-10512_-234-10510del NP_599020.1:n.-234-10512_-234-10510del
NM_134259.2:c.-140+7049_-140+7051del NP_599021.1:n.-140+7049_-140+7051del