Canonical Allele Identifier: CA136889057
Community Standard Title: NM_001365276.2(TNXB):c.4991-85del
Gene: TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32070501del , CM000668.2:g.32070501del GRCh38
NC_000006.11:g.32038278del , CM000668.1:g.32038278del GRCh37
NC_000006.10:g.32146256del NCBI36
NG_008337.2:g.43876del

Transcript Alleles

HGVS Amino-acid Change
NM_001365276.2:c.4991-85del MANE Select NP_001352205.1:n.4991-85del
ENST00000644971.2:c.4991-85del MANE Select ENSP00000496448.1:n.4991-85del
NM_001365276.1:c.4991-85del NP_001352205.1:n.4991-85del
NM_019105.6:c.4991-85del NP_061978.6:n.4991-85del
NM_019105.7:c.4991-85del NP_061978.6:n.4991-85del
NM_019105.8:c.4991-85del NP_061978.6:n.4991-85del
ENST00000375244.7:c.4991-85del ENSP00000364393.3:n.4991-85del
ENST00000613214.4:c.5252-85del ENSP00000480067.1:n.5252-85del
ENST00000647633.1:c.5732-85del ENSP00000497649.1:n.5732-85del