Canonical Allele Identifier: CA2804872096
Gene: CHRNA5 HGNC NCBI
CHRNA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78594573_78594574insTTTTTTA , CM000677.2:g.78594573_78594574insTTTTTTA GRCh38
NC_000015.9:g.78886915_78886916insTTTTTTA , CM000677.1:g.78886915_78886916insTTTTTTA GRCh37
NC_000015.8:g.76673970_76673971insTTTTTTA NCBI36
NG_016143.1:g.31722_31723insTAAAAAA
NG_023328.1:g.34054_34055insTTTTTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.*1320_*1321insTTTTTTA (CHRNA5) MANE Select ENSP00000299565.5:n.*1320_*1321insTTTTTTA
ENST00000348639.7:c.1390-1383_1390-1382insTAAAAAA (CHRNA3) ENSP00000267951.4:n.1390-1383_1390-1382insTAAAAAA
ENST00000559002.5:n.194-1383_194-1382insTAAAAAA (CHRNA3)
ENST00000559658.5:c.*65-563_*65-562insTAAAAAA (CHRNA3) ENSP00000452896.1:n.*65-563_*65-562insTAAAAAA
NM_000745.3:c.*1320_*1321insTTTTTTA (CHRNA5) NP_000736.2:n.*1320_*1321insTTTTTTA
NM_001166694.1:c.1390-1383_1390-1382insTAAAAAA (CHRNA3) NP_001160166.1:n.1390-1383_1390-1382insTAAAAAA
NM_001307945.1:c.*1457_*1458insTTTTTTA (CHRNA5) NP_001294874.1:n.*1457_*1458insTTTTTTA
NR_046313.1:n.2084-563_2084-562insTAAAAAA (CHRNA3)
NM_001166694.2:c.1390-1383_1390-1382insTAAAAAA (CHRNA3) NP_001160166.1:n.1390-1383_1390-1382insTAAAAAA
NM_001307945.2:c.*1457_*1458insTTTTTTA (CHRNA5) NP_001294874.1:n.*1457_*1458insTTTTTTA
NR_046313.2:n.1785-563_1785-562insTAAAAAA (CHRNA3)
NM_000745.4:c.*1320_*1321insTTTTTTA (CHRNA5) MANE Select NP_000736.2:n.*1320_*1321insTTTTTTA
NM_001395171.1:c.*1457_*1458insTTTTTTA (CHRNA5) NP_001382100.1:n.*1457_*1458insTTTTTTA
NM_001395172.1:c.*1320_*1321insTTTTTTA (CHRNA5) NP_001382101.1:n.*1320_*1321insTTTTTTA
NM_001395173.1:c.*1457_*1458insTTTTTTA (CHRNA5) NP_001382102.1:n.*1457_*1458insTTTTTTA
NM_001395174.1:c.*1457_*1458insTTTTTTA (CHRNA5) NP_001382103.1:n.*1457_*1458insTTTTTTA
NM_001395175.1:c.*1457_*1458insTTTTTTA (CHRNA5) NP_001382104.1:n.*1457_*1458insTTTTTTA