Canonical Allele Identifier: CA915944202
Community Standard Title: NM_001365276.2(TNXB):c.10476_10479dup (p.Pro3494SerfsTer?)
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32046302_32046305dup , CM000668.2:g.32046302_32046305dup GRCh38
NC_000006.11:g.32014079_32014082dup , CM000668.1:g.32014079_32014082dup GRCh37
NC_000006.10:g.32122057_32122060dup NCBI36
NG_008337.2:g.68070_68073dup

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.10476_10479dup MANE Select NP_001352205.1:p.Pro3494SerfsTer?
ENST00000644971.2:c.10476_10479dup MANE Select ENSP00000496448.1:p.Pro3494SerfsTer?
NM_001365276.1:c.10476_10479dup NP_001352205.1:p.Pro3494SerfsTer?
NM_019105.6:c.10470_10473dup NP_061978.6:p.Pro3492SerfsTer?
NM_019105.7:c.10470_10473dup NP_061978.6:p.Pro3492SerfsTer?
NM_019105.8:c.10470_10473dup NP_061978.6:p.Pro3492SerfsTer?
ENST00000375244.7:c.10476_10479dup ENSP00000364393.3:p.Pro3494SerfsTer?
ENST00000490077.5:n.303_306dup
ENST00000611016.2:c.3630_3633dup ENSP00000483409.1:p.Pro1212SerfsTer?
ENST00000647633.1:c.11217_11220dup ENSP00000497649.1:p.Pro3741SerfsTer?