Canonical Allele Identifier: CA2575806064
Gene: CHRNA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78601958del , CM000677.2:g.78601958del GRCh38
NC_000015.9:g.78894300del , CM000677.1:g.78894300del GRCh37
NC_000015.8:g.76681355del NCBI36
NG_016143.1:g.24341del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326828.6:c.687del MANE Select ENSP00000315602.5:p.Asp230ThrfsTer?
ENST00000326828.5:c.687del ENSP00000315602.5:p.Asp230ThrfsTer?
ENST00000348639.7:c.687del ENSP00000267951.4:p.Asp230ThrfsTer?
ENST00000558903.1:n.394del
ENST00000559658.5:c.687del ENSP00000452896.1:p.Asp230ThrfsTer?
NM_000743.4:c.687del NP_000734.2:p.Asp230ThrfsTer?
NM_001166694.1:c.687del NP_001160166.1:p.Asp230ThrfsTer?
NR_046313.1:n.1188del
XM_006720382.1:c.486del XP_006720445.1:p.Asp163ThrfsTer?
XM_011521173.1:c.606del XP_011519475.1:p.Asp203ThrfsTer?
XM_006720382.3:c.486del XP_006720445.1:p.Asp163ThrfsTer?
NM_000743.5:c.687del MANE Select NP_000734.2:p.Asp230ThrfsTer?
NM_001166694.2:c.687del NP_001160166.1:p.Asp230ThrfsTer?
NR_046313.2:n.889del