Canonical Allele Identifier: CA1138864689

Gene: TBL1Y

Linked Data

• dbSNP Id: rs2012366131
• gnomAD v3: Y-6991797-C-CAT
• gnomAD v4: Y-6991797-C-CAT

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6991802_6991803dup , CM000686.2:g.6991802_6991803dup	GRCh38
NC_000024.9:g.6859843_6859844dup , CM000686.1:g.6859843_6859844dup	GRCh37
NC_000024.8:g.6919843_6919844dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383032.6:c.-234-4002_-234-4001dup MANE Select	ENSP00000372499.1:n.-234-4002_-234-4001dup
ENST00000346432.3:c.-140+13559_-140+13560dup	ENSP00000328879.4:n.-140+13559_-140+13560dup
ENST00000355162.6:c.-234-4002_-234-4001dup	ENSP00000347289.2:n.-234-4002_-234-4001dup
ENST00000383032.5:c.-234-4002_-234-4001dup	ENSP00000372499.1:n.-234-4002_-234-4001dup
NM_033284.1:c.-234-4002_-234-4001dup	NP_150600.1:n.-234-4002_-234-4001dup
NM_134258.1:c.-234-4002_-234-4001dup	NP_599020.1:n.-234-4002_-234-4001dup
NM_134259.1:c.-140+13559_-140+13560dup	NP_599021.1:n.-140+13559_-140+13560dup
XM_017030086.1:c.-234-4002_-234-4001dup	XP_016885575.1:n.-234-4002_-234-4001dup
XM_017030087.1:c.-234-4002_-234-4001dup	XP_016885576.1:n.-234-4002_-234-4001dup
XM_024452497.1:c.-234-4002_-234-4001dup	XP_024308265.1:n.-234-4002_-234-4001dup
NM_033284.2:c.-234-4002_-234-4001dup MANE Select	NP_150600.1:n.-234-4002_-234-4001dup
NM_134258.2:c.-234-4002_-234-4001dup	NP_599020.1:n.-234-4002_-234-4001dup
NM_134259.2:c.-140+13559_-140+13560dup	NP_599021.1:n.-140+13559_-140+13560dup