Canonical Allele Identifier: CA1096974288

Gene: TBXT

Linked Data

• gnomAD v3: 6-166160609-T-TGTAAAGGAGCCCAGTCCTTCCAGCGAACAGACTGCAAACAGGAACTCGGCAGTCATGTCACCTGCAATCCCTGGGCATAGCTGGCTAATAAAGAATTCTAA
• gnomAD v4: 6-166160609-T-TGTAAAGGAGCCCAGTCCTTCCAGCGAACAGACTGCAAACAGGAACTCGGCAGTCATGTCACCTGCAATCCCTGGGCATAGCTGGCTAATAAAGAATTCTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.166160610_166160710dup , CM000668.2:g.166160610_166160710dup	GRCh38
NC_000006.11:g.166574098_166574198dup , CM000668.1:g.166574098_166574198dup	GRCh37
NC_000006.10:g.166494088_166494188dup	NCBI36
NG_012135.1:g.12934_13034dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000366876.7:c.1037+127_1037+227dup MANE Select	ENSP00000355841.3:n.1037+127_1037+227dup
ENST00000296946.6:c.1034+127_1034+227dup	ENSP00000296946.2:n.1034+127_1034+227dup
ENST00000366871.7:c.860+127_860+227dup	ENSP00000355836.3:n.860+127_860+227dup
ENST00000366876.6:c.1037+127_1037+227dup	ENSP00000355841.2:n.1037+127_1037+227dup
NM_001270484.1:c.860+127_860+227dup	NP_001257413.1:n.860+127_860+227dup
NM_003181.3:c.1034+127_1034+227dup	NP_003172.1:n.1034+127_1034+227dup
XM_011536080.1:c.1037+127_1037+227dup	XP_011534382.1:n.1037+127_1037+227dup
XM_011536081.1:c.860+127_860+227dup	XP_011534383.1:n.860+127_860+227dup
NM_001366285.1:c.1037+127_1037+227dup	NP_001353214.1:n.1037+127_1037+227dup
NM_001366286.1:c.1037+127_1037+227dup	NP_001353215.1:n.1037+127_1037+227dup
NM_001270484.2:c.860+127_860+227dup	NP_001257413.1:n.860+127_860+227dup
NM_001366285.2:c.1037+127_1037+227dup MANE Select	NP_001353214.1:n.1037+127_1037+227dup
NM_001366286.2:c.1037+127_1037+227dup	NP_001353215.1:n.1037+127_1037+227dup
NM_003181.4:c.1034+127_1034+227dup	NP_003172.1:n.1034+127_1034+227dup