Canonical Allele Identifier: CA2189593473

Gene: CHRNA5

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78590401_78590404delinsTTCA , CM000677.2:g.78590401_78590404delinsTTCA	GRCh38
NC_000015.9:g.78882743_78882746delinsTTCA , CM000677.1:g.78882743_78882746delinsTTCA	GRCh37
NC_000015.8:g.76669798_76669801delinsTTCA	NCBI36
NG_023328.1:g.29882_29885delinsTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.1010_1013delinsTTCA MANE Select	ENSP00000299565.5:p.Ile337=
ENST00000394802.4:c.522+303_522+306delinsTTCA
ENST00000559554.5:c.458+552_458+555delinsTTCA	ENSP00000453519.1:n.458+552_458+555delinsTTCA
ENST00000559576.1:c.40_43delinsTTCA
NM_000745.3:c.1010_1013delinsTTCA	NP_000736.2:p.Ile337=
NM_001307945.1:c.458+552_458+555delinsTTCA	NP_001294874.1:n.458+552_458+555delinsTTCA
XM_005254142.2:c.707+303_707+306delinsTTCA	XP_005254199.1:n.707+303_707+306delinsTTCA
NM_001307945.2:c.458+552_458+555delinsTTCA	NP_001294874.1:n.458+552_458+555delinsTTCA
NM_000745.4:c.1010_1013delinsTTCA MANE Select	NP_000736.2:p.Ile337=
NM_001395171.1:c.1010_1013delinsTTCA	NP_001382100.1:p.Ile337=
NM_001395172.1:c.591+419_591+422delinsTTCA	NP_001382101.1:n.591+419_591+422delinsTTCA
NM_001395173.1:c.713+297_713+300delinsTTCA	NP_001382102.1:n.713+297_713+300delinsTTCA
NM_001395174.1:c.707+303_707+306delinsTTCA	NP_001382103.1:n.707+303_707+306delinsTTCA
NM_001395175.1:c.455+552_455+555delinsTTCA	NP_001382104.1:n.455+552_455+555delinsTTCA