Canonical Allele Identifier: CA212898
Gene: TNXB HGNC NCBI
gnomAD v2:
6:32052343 CTT / C
gnomAD v3:
6:32084566 CTT / C
gnomAD v4:
chr6-32084566-CTT-C
Joint Max Group AF 0.00001569 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00001297 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32084568_32084569del , CM000668.2:g.32084568_32084569del GRCh38
NC_000006.11:g.32052345_32052346del , CM000668.1:g.32052345_32052346del GRCh37
NC_000006.10:g.32160323_32160324del NCBI36
NG_008337.2:g.29807_29808del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644971.2:c.3290_3291del MANE Select ENSP00000496448.1:p.Lys1097ArgfsTer?
ENST00000647633.1:c.4031_4032del ENSP00000497649.1:p.Lys1344ArgfsTer?
ENST00000375244.7:c.3290_3291del ENSP00000364393.3:p.Lys1097ArgfsTer?
ENST00000613214.4:c.3551_3552del ENSP00000480067.1:p.Lys1184ArgfsTer?
NM_019105.6:c.3290_3291del NP_061978.6:p.Lys1097ArgfsTer?
NM_001365276.1:c.3290_3291del NP_001352205.1:p.Lys1097ArgfsTer?
NM_019105.7:c.3290_3291del NP_061978.6:p.Lys1097ArgfsTer?
NM_001365276.2:c.3290_3291del MANE Select NP_001352205.1:p.Lys1097ArgfsTer?
NM_019105.8:c.3290_3291del NP_061978.6:p.Lys1097ArgfsTer?
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