Canonical Allele Identifier: CA2189596945
Gene: CHRNA5 HGNC NCBI
CHRNA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78593674_78593677delinsTATA , CM000677.2:g.78593674_78593677delinsTATA GRCh38
NC_000015.9:g.78886016_78886019delinsTATA , CM000677.1:g.78886016_78886019delinsTATA GRCh37
NC_000015.8:g.76673071_76673074delinsTATA NCBI36
NG_016143.1:g.32619_32622delinsTATA
NG_023328.1:g.33155_33158delinsTATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.*421_*424delinsTATA (CHRNA5) MANE Select ENSP00000299565.5:n.*421_*424delinsTATA
ENST00000348639.7:c.1390-486_1390-483delinsTATA (CHRNA3) ENSP00000267951.4:n.1390-486_1390-483delinsTATA
ENST00000559002.5:n.194-486_194-483delinsTATA (CHRNA3)
ENST00000559576.1:c.728_731delinsTATA (CHRNA5)
ENST00000559658.5:c.*162+237_*162+240delinsTATA (CHRNA3) ENSP00000452896.1:n.*162+237_*162+240delinsTATA
NM_000745.3:c.*421_*424delinsTATA (CHRNA5) NP_000736.2:n.*421_*424delinsTATA
NM_001166694.1:c.1390-486_1390-483delinsTATA (CHRNA3) NP_001160166.1:n.1390-486_1390-483delinsTATA
NM_001307945.1:c.*558_*561delinsTATA (CHRNA5) NP_001294874.1:n.*558_*561delinsTATA
NR_046313.1:n.2181+237_2181+240delinsTATA (CHRNA3)
NM_001166694.2:c.1390-486_1390-483delinsTATA (CHRNA3) NP_001160166.1:n.1390-486_1390-483delinsTATA
NM_001307945.2:c.*558_*561delinsTATA (CHRNA5) NP_001294874.1:n.*558_*561delinsTATA
NR_046313.2:n.1882+237_1882+240delinsTATA (CHRNA3)
NM_000745.4:c.*421_*424delinsTATA (CHRNA5) MANE Select NP_000736.2:n.*421_*424delinsTATA
NM_001395171.1:c.*558_*561delinsTATA (CHRNA5) NP_001382100.1:n.*558_*561delinsTATA
NM_001395172.1:c.*421_*424delinsTATA (CHRNA5) NP_001382101.1:n.*421_*424delinsTATA
NM_001395173.1:c.*558_*561delinsTATA (CHRNA5) NP_001382102.1:n.*558_*561delinsTATA
NM_001395174.1:c.*558_*561delinsTATA (CHRNA5) NP_001382103.1:n.*558_*561delinsTATA
NM_001395175.1:c.*558_*561delinsTATA (CHRNA5) NP_001382104.1:n.*558_*561delinsTATA