Canonical Allele Identifier: CA1138864698
Gene: TBL1Y HGNC NCBI

Linked Data

gnomAD v3: Y-6991839-TC-T
gnomAD v4: Y-6991839-TC-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6991840del , CM000686.2:g.6991840del GRCh38
NC_000024.9:g.6859881del , CM000686.1:g.6859881del GRCh37
NC_000024.8:g.6919881del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000383032.6:c.-234-3964del MANE Select ENSP00000372499.1:n.-234-3964del
ENST00000346432.3:c.-140+13597del ENSP00000328879.4:n.-140+13597del
ENST00000355162.6:c.-234-3964del ENSP00000347289.2:n.-234-3964del
ENST00000383032.5:c.-234-3964del ENSP00000372499.1:n.-234-3964del
NM_033284.1:c.-234-3964del NP_150600.1:n.-234-3964del
NM_134258.1:c.-234-3964del NP_599020.1:n.-234-3964del
NM_134259.1:c.-140+13597del NP_599021.1:n.-140+13597del
XM_017030086.1:c.-234-3964del XP_016885575.1:n.-234-3964del
XM_017030087.1:c.-234-3964del XP_016885576.1:n.-234-3964del
XM_024452497.1:c.-234-3964del XP_024308265.1:n.-234-3964del
NM_033284.2:c.-234-3964del MANE Select NP_150600.1:n.-234-3964del
NM_134258.2:c.-234-3964del NP_599020.1:n.-234-3964del
NM_134259.2:c.-140+13597del NP_599021.1:n.-140+13597del