Canonical Allele Identifier: CA2573052669
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32081646_32081647delinsTA , CM000668.2:g.32081646_32081647delinsTA GRCh38
NC_000006.11:g.32049423_32049424delinsTA , CM000668.1:g.32049423_32049424delinsTA GRCh37
NC_000006.10:g.32157401_32157402delinsTA NCBI36
NG_008337.2:g.32728_32729delinsTA

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.3763_3764delinsTA MANE Select NP_001352205.1:p.Arg1255Tyr
ENST00000644971.2:c.3763_3764delinsTA MANE Select ENSP00000496448.1:p.Arg1255Tyr
NM_001365276.1:c.3763_3764delinsTA NP_001352205.1:p.Arg1255Tyr
NM_019105.6:c.3763_3764delinsTA NP_061978.6:p.Arg1255Tyr
NM_019105.7:c.3763_3764delinsTA NP_061978.6:p.Arg1255Tyr
NM_019105.8:c.3763_3764delinsTA NP_061978.6:p.Arg1255Tyr
ENST00000375244.7:c.3763_3764delinsTA ENSP00000364393.3:p.Arg1255Tyr
ENST00000613214.4:c.4024_4025delinsTA ENSP00000480067.1:p.Arg1342Tyr
ENST00000647633.1:c.4504_4505delinsTA ENSP00000497649.1:p.Arg1502Tyr