Canonical Allele Identifier: CA1138865443

Gene: TBL1Y

Linked Data

• dbSNP Id: rs2012381172
• gnomAD v3: Y-6993189-T-TTTTCTTTCTTCCTTTC
• gnomAD v4: Y-6993189-T-TTTTCTTTCTTCCTTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6993199_6993200insCCTTTCTTTCTTTCTT , CM000686.2:g.6993199_6993200insCCTTTCTTTCTTTCTT	GRCh38
NC_000024.9:g.6861240_6861241insCCTTTCTTTCTTTCTT , CM000686.1:g.6861240_6861241insCCTTTCTTTCTTTCTT	GRCh37
NC_000024.8:g.6921240_6921241insCCTTTCTTTCTTTCTT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000383032.6:c.-234-2605_-234-2604insCCTTTCTTTCTTTCTT MANE Select	ENSP00000372499.1:n.-234-2605_-234-2604insCCTTTCTTTCTTTCTT
ENST00000346432.3:c.-140+14956_-140+14957insCCTTTCTTTCTTTCTT	ENSP00000328879.4:n.-140+14956_-140+14957insCCTTTCTTTCTTTCTT
ENST00000355162.6:c.-234-2605_-234-2604insCCTTTCTTTCTTTCTT	ENSP00000347289.2:n.-234-2605_-234-2604insCCTTTCTTTCTTTCTT
ENST00000383032.5:c.-234-2605_-234-2604insCCTTTCTTTCTTTCTT	ENSP00000372499.1:n.-234-2605_-234-2604insCCTTTCTTTCTTTCTT
NM_033284.1:c.-234-2605_-234-2604insCCTTTCTTTCTTTCTT	NP_150600.1:n.-234-2605_-234-2604insCCTTTCTTTCTTTCTT
NM_134258.1:c.-234-2605_-234-2604insCCTTTCTTTCTTTCTT	NP_599020.1:n.-234-2605_-234-2604insCCTTTCTTTCTTTCTT
NM_134259.1:c.-140+14956_-140+14957insCCTTTCTTTCTTTCTT	NP_599021.1:n.-140+14956_-140+14957insCCTTTCTTTCTTTCTT
XM_017030086.1:c.-234-2605_-234-2604insCCTTTCTTTCTTTCTT	XP_016885575.1:n.-234-2605_-234-2604insCCTTTCTTTCTTTCTT
XM_017030087.1:c.-234-2605_-234-2604insCCTTTCTTTCTTTCTT	XP_016885576.1:n.-234-2605_-234-2604insCCTTTCTTTCTTTCTT
XM_024452497.1:c.-234-2605_-234-2604insCCTTTCTTTCTTTCTT	XP_024308265.1:n.-234-2605_-234-2604insCCTTTCTTTCTTTCTT
NM_033284.2:c.-234-2605_-234-2604insCCTTTCTTTCTTTCTT MANE Select	NP_150600.1:n.-234-2605_-234-2604insCCTTTCTTTCTTTCTT
NM_134258.2:c.-234-2605_-234-2604insCCTTTCTTTCTTTCTT	NP_599020.1:n.-234-2605_-234-2604insCCTTTCTTTCTTTCTT
NM_134259.2:c.-140+14956_-140+14957insCCTTTCTTTCTTTCTT	NP_599021.1:n.-140+14956_-140+14957insCCTTTCTTTCTTTCTT