Canonical Allele Identifier: CA1138865421

Gene: TBL1Y

Linked Data

• dbSNP Id: rs2012381005
• gnomAD v3: Y-6993189-T-TTTTCTTCC
• gnomAD v4: Y-6993189-T-TTTTCTTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6993195_6993196insCCTTTCTT , CM000686.2:g.6993195_6993196insCCTTTCTT	GRCh38
NC_000024.9:g.6861236_6861237insCCTTTCTT , CM000686.1:g.6861236_6861237insCCTTTCTT	GRCh37
NC_000024.8:g.6921236_6921237insCCTTTCTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383032.6:c.-234-2609_-234-2608insCCTTTCTT MANE Select	ENSP00000372499.1:n.-234-2609_-234-2608insCCTTTCTT
ENST00000346432.3:c.-140+14952_-140+14953insCCTTTCTT	ENSP00000328879.4:n.-140+14952_-140+14953insCCTTTCTT
ENST00000355162.6:c.-234-2609_-234-2608insCCTTTCTT	ENSP00000347289.2:n.-234-2609_-234-2608insCCTTTCTT
ENST00000383032.5:c.-234-2609_-234-2608insCCTTTCTT	ENSP00000372499.1:n.-234-2609_-234-2608insCCTTTCTT
NM_033284.1:c.-234-2609_-234-2608insCCTTTCTT	NP_150600.1:n.-234-2609_-234-2608insCCTTTCTT
NM_134258.1:c.-234-2609_-234-2608insCCTTTCTT	NP_599020.1:n.-234-2609_-234-2608insCCTTTCTT
NM_134259.1:c.-140+14952_-140+14953insCCTTTCTT	NP_599021.1:n.-140+14952_-140+14953insCCTTTCTT
XM_017030086.1:c.-234-2609_-234-2608insCCTTTCTT	XP_016885575.1:n.-234-2609_-234-2608insCCTTTCTT
XM_017030087.1:c.-234-2609_-234-2608insCCTTTCTT	XP_016885576.1:n.-234-2609_-234-2608insCCTTTCTT
XM_024452497.1:c.-234-2609_-234-2608insCCTTTCTT	XP_024308265.1:n.-234-2609_-234-2608insCCTTTCTT
NM_033284.2:c.-234-2609_-234-2608insCCTTTCTT MANE Select	NP_150600.1:n.-234-2609_-234-2608insCCTTTCTT
NM_134258.2:c.-234-2609_-234-2608insCCTTTCTT	NP_599020.1:n.-234-2609_-234-2608insCCTTTCTT
NM_134259.2:c.-140+14952_-140+14953insCCTTTCTT	NP_599021.1:n.-140+14952_-140+14953insCCTTTCTT