Canonical Allele Identifier: CA2189593686
Gene: CHRNA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78590562_78590564delinsAAC , CM000677.2:g.78590562_78590564delinsAAC GRCh38
NC_000015.9:g.78882904_78882906delinsAAC , CM000677.1:g.78882904_78882906delinsAAC GRCh37
NC_000015.8:g.76669959_76669961delinsAAC NCBI36
NG_023328.1:g.30043_30045delinsAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.1171_1173delinsAAC MANE Select ENSP00000299565.5:p.Asn391=
ENST00000394802.4:c.522+464_522+466delinsAAC
ENST00000559554.5:c.458+713_458+715delinsAAC ENSP00000453519.1:n.458+713_458+715delinsAAC
ENST00000559576.1:c.145+56_145+58delinsAAC
NM_000745.3:c.1171_1173delinsAAC NP_000736.2:p.Asn391=
NM_001307945.1:c.458+713_458+715delinsAAC NP_001294874.1:n.458+713_458+715delinsAAC
XM_005254142.2:c.707+464_707+466delinsAAC XP_005254199.1:n.707+464_707+466delinsAAC
NM_001307945.2:c.458+713_458+715delinsAAC NP_001294874.1:n.458+713_458+715delinsAAC
NM_000745.4:c.1171_1173delinsAAC MANE Select NP_000736.2:p.Asn391=
NM_001395171.1:c.1115+56_1115+58delinsAAC NP_001382100.1:n.1115+56_1115+58delinsAAC
NM_001395172.1:c.591+580_591+582delinsAAC NP_001382101.1:n.591+580_591+582delinsAAC
NM_001395173.1:c.713+458_713+460delinsAAC NP_001382102.1:n.713+458_713+460delinsAAC
NM_001395174.1:c.707+464_707+466delinsAAC NP_001382103.1:n.707+464_707+466delinsAAC
NM_001395175.1:c.455+713_455+715delinsAAC NP_001382104.1:n.455+713_455+715delinsAAC