Canonical Allele Identifier: CA16621835
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32081652_32081653dup , CM000668.2:g.32081652_32081653dup GRCh38
NC_000006.11:g.32049429_32049430dup , CM000668.1:g.32049429_32049430dup GRCh37
NC_000006.10:g.32157407_32157408dup NCBI36
NG_008337.2:g.32727_32728dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644971.2:c.3762_3763dup MANE Select ENSP00000496448.1:p.Arg1255ProfsTer14
ENST00000647633.1:c.4503_4504dup ENSP00000497649.1:p.Arg1502ProfsTer14
ENST00000375244.7:c.3762_3763dup ENSP00000364393.3:p.Arg1255ProfsTer14
ENST00000613214.4:c.4023_4024dup ENSP00000480067.1:p.Arg1342ProfsTer14
NM_019105.6:c.3762_3763dup NP_061978.6:p.Arg1255ProfsTer14
NM_001365276.1:c.3762_3763dup NP_001352205.1:p.Arg1255ProfsTer14
NM_019105.7:c.3762_3763dup NP_061978.6:p.Arg1255ProfsTer14
NM_001365276.2:c.3762_3763dup MANE Select NP_001352205.1:p.Arg1255ProfsTer14
NM_019105.8:c.3762_3763dup NP_061978.6:p.Arg1255ProfsTer14