Canonical Allele Identifier: CA337555170
Gene: TBL1Y HGNC NCBI

Linked Data

dbSNP Id: rs187454144
gnomAD v3: Y-7003336-G-GT
gnomAD v4: Y-7003336-G-GT

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7003337dup , CM000686.2:g.7003337dup GRCh38
NC_000024.9:g.6871378dup , CM000686.1:g.6871378dup GRCh37
NC_000024.8:g.6931378dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000383032.6:c.-140+7439dup MANE Select ENSP00000372499.1:n.-140+7439dup
ENST00000346432.3:c.-139-18112dup ENSP00000328879.4:n.-139-18112dup
ENST00000355162.6:c.-140+7439dup ENSP00000347289.2:n.-140+7439dup
ENST00000383032.5:c.-140+7439dup ENSP00000372499.1:n.-140+7439dup
NM_033284.1:c.-140+7439dup NP_150600.1:n.-140+7439dup
NM_134258.1:c.-140+7439dup NP_599020.1:n.-140+7439dup
NM_134259.1:c.-139-18112dup NP_599021.1:n.-139-18112dup
XM_017030086.1:c.-140+7439dup XP_016885575.1:n.-140+7439dup
XM_017030087.1:c.-140+7439dup XP_016885576.1:n.-140+7439dup
XM_024452497.1:c.-140+7439dup XP_024308265.1:n.-140+7439dup
NM_033284.2:c.-140+7439dup MANE Select NP_150600.1:n.-140+7439dup
NM_134258.2:c.-140+7439dup NP_599020.1:n.-140+7439dup
NM_134259.2:c.-139-18112dup NP_599021.1:n.-139-18112dup