Canonical Allele Identifier: CA1138859108
Gene: TBL1Y HGNC NCBI

Linked Data

dbSNP Id: rs2012229724
gnomAD v3: Y-6975121-TG-T
gnomAD v4: Y-6975121-TG-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6975122del , CM000686.2:g.6975122del GRCh38
NC_000024.9:g.6843163del , CM000686.1:g.6843163del GRCh37
NC_000024.8:g.6903163del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000383032.6:c.-265-3091del MANE Select ENSP00000372499.1:n.-265-3091del
ENST00000346432.3:c.-170-3091del ENSP00000328879.4:n.-170-3091del
ENST00000355162.6:c.-234-20682del ENSP00000347289.2:n.-234-20682del
ENST00000383032.5:c.-265-3091del ENSP00000372499.1:n.-265-3091del
NM_033284.1:c.-265-3091del NP_150600.1:n.-265-3091del
NM_134258.1:c.-234-20682del NP_599020.1:n.-234-20682del
NM_134259.1:c.-170-3091del NP_599021.1:n.-170-3091del
XM_017030086.1:c.-265-3091del XP_016885575.1:n.-265-3091del
XM_017030087.1:c.-265-3091del XP_016885576.1:n.-265-3091del
XM_024452497.1:c.-265-3091del XP_024308265.1:n.-265-3091del
NM_033284.2:c.-265-3091del MANE Select NP_150600.1:n.-265-3091del
NM_134258.2:c.-234-20682del NP_599020.1:n.-234-20682del
NM_134259.2:c.-170-3091del NP_599021.1:n.-170-3091del