Canonical Allele Identifier: CA3734131
Community Standard Title: NM_001365276.2(TNXB):c.7493-46del
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32058437del , CM000668.2:g.32058437del GRCh38
NC_000006.11:g.32026214del , CM000668.1:g.32026214del GRCh37
NC_000006.10:g.32134192del NCBI36
NG_008337.2:g.55939del

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.7493-46del MANE Select NP_001352205.1:n.7493-46del
ENST00000644971.2:c.7493-46del MANE Select ENSP00000496448.1:n.7493-46del
NM_001365276.1:c.7493-46del NP_001352205.1:n.7493-46del
NM_019105.6:c.7493-46del NP_061978.6:n.7493-46del
NM_019105.7:c.7493-46del NP_061978.6:n.7493-46del
NM_019105.8:c.7493-46del NP_061978.6:n.7493-46del
ENST00000375244.7:c.7493-46del ENSP00000364393.3:n.7493-46del
ENST00000611016.2:c.653-46del ENSP00000483409.1:n.653-46del
ENST00000647633.1:c.8234-46del ENSP00000497649.1:n.8234-46del