Canonical Allele Identifier: CA2189593742
Gene: CHRNA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78590594_78590599delinsCTACAT , CM000677.2:g.78590594_78590599delinsCTACAT GRCh38
NC_000015.9:g.78882936_78882941delinsCTACAT , CM000677.1:g.78882936_78882941delinsCTACAT GRCh37
NC_000015.8:g.76669991_76669996delinsCTACAT NCBI36
NG_023328.1:g.30075_30080delinsCTACAT

Transcript Alleles

HGVS Amino-acid change
ENST00000299565.9:c.1203_1208delinsCTACAT MANE Select ENSP00000299565.5:p.Arg401=
ENST00000394802.4:c.522+496_522+501delinsCTACAT
ENST00000559554.5:c.458+745_458+750delinsCTACAT ENSP00000453519.1:n.458+745_458+750delins...
ENST00000559576.1:c.145+88_145+93delinsCTACAT
NM_000745.3:c.1203_1208delinsCTACAT NP_000736.2:p.Arg401=
NM_001307945.1:c.458+745_458+750delinsCTACAT NP_001294874.1:n.458+745_458+750delinsCTA...
XM_005254142.2:c.707+496_707+501delinsCTACAT XP_005254199.1:n.707+496_707+501delinsCTA...
NM_001307945.2:c.458+745_458+750delinsCTACAT NP_001294874.1:n.458+745_458+750delinsCTA...
NM_000745.4:c.1203_1208delinsCTACAT MANE Select NP_000736.2:p.Arg401=
NM_001395171.1:c.1115+88_1115+93delinsCTACAT NP_001382100.1:n.1115+88_1115+93delinsCTA...
NM_001395172.1:c.591+612_591+617delinsCTACAT NP_001382101.1:n.591+612_591+617delinsCTA...
NM_001395173.1:c.713+490_713+495delinsCTACAT NP_001382102.1:n.713+490_713+495delinsCTA...
NM_001395174.1:c.707+496_707+501delinsCTACAT NP_001382103.1:n.707+496_707+501delinsCTA...
NM_001395175.1:c.455+745_455+750delinsCTACAT NP_001382104.1:n.455+745_455+750delinsCTA...