Canonical Allele Identifier: CA2824505554
Gene: TBL1Y HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6993004_6993005insTT , CM000686.2:g.6993004_6993005insTT GRCh38
NC_000024.9:g.6861045_6861046insTT , CM000686.1:g.6861045_6861046insTT GRCh37
NC_000024.8:g.6921045_6921046insTT NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000383032.6:c.-234-2800_-234-2799insTT MANE Select ENSP00000372499.1:n.-234-2800_-234-2799insTT
ENST00000346432.3:c.-140+14761_-140+14762insTT ENSP00000328879.4:n.-140+14761_-140+14762insTT
ENST00000355162.6:c.-234-2800_-234-2799insTT ENSP00000347289.2:n.-234-2800_-234-2799insTT
ENST00000383032.5:c.-234-2800_-234-2799insTT ENSP00000372499.1:n.-234-2800_-234-2799insTT
NM_033284.1:c.-234-2800_-234-2799insTT NP_150600.1:n.-234-2800_-234-2799insTT
NM_134258.1:c.-234-2800_-234-2799insTT NP_599020.1:n.-234-2800_-234-2799insTT
NM_134259.1:c.-140+14761_-140+14762insTT NP_599021.1:n.-140+14761_-140+14762insTT
XM_017030086.1:c.-234-2800_-234-2799insTT XP_016885575.1:n.-234-2800_-234-2799insTT
XM_017030087.1:c.-234-2800_-234-2799insTT XP_016885576.1:n.-234-2800_-234-2799insTT
XM_024452497.1:c.-234-2800_-234-2799insTT XP_024308265.1:n.-234-2800_-234-2799insTT
NM_033284.2:c.-234-2800_-234-2799insTT MANE Select NP_150600.1:n.-234-2800_-234-2799insTT
NM_134258.2:c.-234-2800_-234-2799insTT NP_599020.1:n.-234-2800_-234-2799insTT
NM_134259.2:c.-140+14761_-140+14762insTT NP_599021.1:n.-140+14761_-140+14762insTT