Canonical Allele Identifier: CA891862918
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32043539_32043540delinsTC , CM000668.2:g.32043539_32043540delinsTC GRCh38
NC_000006.11:g.32011316_32011317delinsTC , CM000668.1:g.32011316_32011317delinsTC GRCh37
NC_000006.10:g.32119295_32119296delinsTC NCBI36
NG_007941.2:g.10232_10233delinsTC
NG_008337.2:g.70835_70836delinsGA
NG_007941.3:g.10235_10236delinsTC

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.11547_11548delinsGA MANE Select NP_001352205.1:p.Gln3850Lys
ENST00000644971.2:c.11547_11548delinsGA MANE Select ENSP00000496448.1:p.Gln3850Lys
NM_001365276.1:c.11547_11548delinsGA NP_001352205.1:p.Gln3850Lys
NM_019105.6:c.11541_11542delinsGA NP_061978.6:p.Gln3848Lys
NM_019105.7:c.11541_11542delinsGA NP_061978.6:p.Gln3848Lys
NM_019105.8:c.11541_11542delinsGA NP_061978.6:p.Gln3848Lys
NM_032470.3:c.834_835delinsGA NP_115859.2:p.Gln279Lys
NM_032470.4:c.834_835delinsGA NP_115859.2:p.Gln279Lys
ENST00000375244.7:c.11547_11548delinsGA ENSP00000364393.3:p.Gln3850Lys
ENST00000451343.4:c.834_835delinsGA ENSP00000407685.1:p.Gln279Lys
ENST00000490077.5:n.1374_1375delinsGA
ENST00000611016.2:c.4701_4702delinsGA ENSP00000483409.1:p.Gln1568Lys
ENST00000647633.1:c.12288_12289delinsGA ENSP00000497649.1:p.Gln4097Lys