Canonical Allele Identifier: CA1138878434

Gene: TBL1Y

Linked Data

• dbSNP Id: rs2012750448
• gnomAD v3: Y-7044945-TCA-T
• gnomAD v4: Y-7044945-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.7044946_7044947del , CM000686.2:g.7044946_7044947del	GRCh38
NC_000024.9:g.6912987_6912988del , CM000686.1:g.6912987_6912988del	GRCh37
NC_000024.8:g.6972987_6972988del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000383032.6:c.204+1821_204+1822del MANE Select	ENSP00000372499.1:n.204+1821_204+1822del
ENST00000346432.3:c.204+1821_204+1822del	ENSP00000328879.4:n.204+1821_204+1822del
ENST00000355162.6:c.204+1821_204+1822del	ENSP00000347289.2:n.204+1821_204+1822del
ENST00000383032.5:c.204+1821_204+1822del	ENSP00000372499.1:n.204+1821_204+1822del
NM_033284.1:c.204+1821_204+1822del	NP_150600.1:n.204+1821_204+1822del
NM_134258.1:c.204+1821_204+1822del	NP_599020.1:n.204+1821_204+1822del
NM_134259.1:c.204+1821_204+1822del	NP_599021.1:n.204+1821_204+1822del
XM_005262572.2:c.246+1821_246+1822del	XP_005262629.1:n.246+1821_246+1822del
XM_005262572.3:c.246+1821_246+1822del	XP_005262629.1:n.246+1821_246+1822del
XM_017030086.1:c.204+1821_204+1822del	XP_016885575.1:n.204+1821_204+1822del
XM_017030087.1:c.204+1821_204+1822del	XP_016885576.1:n.204+1821_204+1822del
XM_024452497.1:c.204+1821_204+1822del	XP_024308265.1:n.204+1821_204+1822del
NM_033284.2:c.204+1821_204+1822del MANE Select	NP_150600.1:n.204+1821_204+1822del
NM_134258.2:c.204+1821_204+1822del	NP_599020.1:n.204+1821_204+1822del
NM_134259.2:c.204+1821_204+1822del	NP_599021.1:n.204+1821_204+1822del