Canonical Allele Identifier: CA2189593428
Gene: CHRNA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78590377_78590378delinsTG , CM000677.2:g.78590377_78590378delinsTG GRCh38
NC_000015.9:g.78882719_78882720delinsTG , CM000677.1:g.78882719_78882720delinsTG GRCh37
NC_000015.8:g.76669774_76669775delinsTG NCBI36
NG_023328.1:g.29858_29859delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.986_987delinsTG MANE Select ENSP00000299565.5:p.Met329=
ENST00000394802.4:c.522+279_522+280delinsTG
ENST00000559554.5:c.458+528_458+529delinsTG ENSP00000453519.1:n.458+528_458+529delinsTG
ENST00000559576.1:c.16_17delinsTG
NM_000745.3:c.986_987delinsTG NP_000736.2:p.Met329=
NM_001307945.1:c.458+528_458+529delinsTG NP_001294874.1:n.458+528_458+529delinsTG
XM_005254142.2:c.707+279_707+280delinsTG XP_005254199.1:n.707+279_707+280delinsTG
NM_001307945.2:c.458+528_458+529delinsTG NP_001294874.1:n.458+528_458+529delinsTG
NM_000745.4:c.986_987delinsTG MANE Select NP_000736.2:p.Met329=
NM_001395171.1:c.986_987delinsTG NP_001382100.1:p.Met329=
NM_001395172.1:c.591+395_591+396delinsTG NP_001382101.1:n.591+395_591+396delinsTG
NM_001395173.1:c.713+273_713+274delinsTG NP_001382102.1:n.713+273_713+274delinsTG
NM_001395174.1:c.707+279_707+280delinsTG NP_001382103.1:n.707+279_707+280delinsTG
NM_001395175.1:c.455+528_455+529delinsTG NP_001382104.1:n.455+528_455+529delinsTG