Canonical Allele Identifier: CA3735459
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32089068_32089070del , CM000668.2:g.32089068_32089070del GRCh38
NC_000006.11:g.32056845_32056847del , CM000668.1:g.32056845_32056847del GRCh37
NC_000006.10:g.32164823_32164825del NCBI36
NG_008337.2:g.25310_25312del

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.2516-17_2516-15del MANE Select NP_001352205.1:n.2516-17_2516-15del
ENST00000644971.2:c.2516-17_2516-15del MANE Select ENSP00000496448.1:n.2516-17_2516-15del
NM_001365276.1:c.2516-17_2516-15del NP_001352205.1:n.2516-17_2516-15del
NM_019105.6:c.2516-17_2516-15del NP_061978.6:n.2516-17_2516-15del
NM_019105.7:c.2516-17_2516-15del NP_061978.6:n.2516-17_2516-15del
NM_019105.8:c.2516-17_2516-15del NP_061978.6:n.2516-17_2516-15del
ENST00000375244.7:c.2516-17_2516-15del ENSP00000364393.3:n.2516-17_2516-15del
ENST00000613214.4:c.2372-17_2372-15del ENSP00000480067.1:n.2372-17_2372-15del
ENST00000647633.1:c.2516-17_2516-15del ENSP00000497649.1:n.2516-17_2516-15del