Canonical Allele Identifier: CA1138820580

Gene: TBL1Y

Linked Data

• dbSNP Id: rs2013114598
• gnomAD v3: Y-7083974-GGGCCACCCA-G
• gnomAD v4: Y-7083974-GGGCCACCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.7083975_7083983del , CM000686.2:g.7083975_7083983del	GRCh38
NC_000024.9:g.6952016_6952024del , CM000686.1:g.6952016_6952024del	GRCh37
NC_000024.8:g.7012016_7012024del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000383032.6:c.1078-1923_1078-1915del MANE Select	ENSP00000372499.1:n.1078-1923_1078-1915de...
ENST00000346432.3:c.1078-1923_1078-1915del	ENSP00000328879.4:n.1078-1923_1078-1915de...
ENST00000355162.6:c.1078-1923_1078-1915del	ENSP00000347289.2:n.1078-1923_1078-1915de...
ENST00000383032.5:c.1078-1923_1078-1915del	ENSP00000372499.1:n.1078-1923_1078-1915de...
NM_033284.1:c.1078-1923_1078-1915del	NP_150600.1:n.1078-1923_1078-1915del
NM_134258.1:c.1078-1923_1078-1915del	NP_599020.1:n.1078-1923_1078-1915del
NM_134259.1:c.1078-1923_1078-1915del	NP_599021.1:n.1078-1923_1078-1915del
XM_005262572.2:c.1120-1923_1120-1915del	XP_005262629.1:n.1120-1923_1120-1915del
XM_005262572.3:c.1120-1923_1120-1915del	XP_005262629.1:n.1120-1923_1120-1915del
XM_017030086.1:c.1078-1923_1078-1915del	XP_016885575.1:n.1078-1923_1078-1915del
XM_017030087.1:c.1078-1923_1078-1915del	XP_016885576.1:n.1078-1923_1078-1915del
XM_024452497.1:c.1078-1923_1078-1915del	XP_024308265.1:n.1078-1923_1078-1915del
NM_033284.2:c.1078-1923_1078-1915del MANE Select	NP_150600.1:n.1078-1923_1078-1915del
NM_134258.2:c.1078-1923_1078-1915del	NP_599020.1:n.1078-1923_1078-1915del
NM_134259.2:c.1078-1923_1078-1915del	NP_599021.1:n.1078-1923_1078-1915del