Canonical Allele Identifier: CA136908752

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32098460dup , CM000668.2:g.32098460dup GRCh38
NC_000006.11:g.32066237dup , CM000668.1:g.32066237dup GRCh37
NC_000006.10:g.32174215dup NCBI36
NG_008337.2:g.15921dup

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.-8-248dup (TNXB) MANE Select NP_001352205.1:n.-8-248dup
ENST00000644971.2:c.-8-248dup (TNXB) MANE Select ENSP00000496448.1:n.-8-248dup
NM_001365276.1:c.-8-248dup (TNXB) NP_001352205.1:n.-8-248dup
NM_019105.6:c.-8-248dup (TNXB) NP_061978.6:n.-8-248dup
NM_019105.7:c.-8-248dup (TNXB) NP_061978.6:n.-8-248dup
NM_019105.8:c.-8-248dup (TNXB) NP_061978.6:n.-8-248dup
ENST00000375244.7:c.-8-248dup (TNXB) ENSP00000364393.3:n.-8-248dup
ENST00000442721.1:c.-8-248dup (TNXB) ENSP00000389946.1:n.-8-248dup
ENST00000479795.1:c.-8-248dup (TNXB) ENSP00000418248.1:n.-8-248dup
ENST00000486148.1:n.42-248dup (TNXB)
ENST00000494022.1:n.290-248dup (ATF6B)
ENST00000647633.1:c.-8-248dup (TNXB) ENSP00000497649.1:n.-8-248dup