Canonical Allele Identifier: CA2189593759

Gene: CHRNA5

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78590608_78590611delinsACAT , CM000677.2:g.78590608_78590611delinsACAT	GRCh38
NC_000015.9:g.78882950_78882953delinsACAT , CM000677.1:g.78882950_78882953delinsACAT	GRCh37
NC_000015.8:g.76670005_76670008delinsACAT	NCBI36
NG_023328.1:g.30089_30092delinsACAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000299565.9:c.1217_1220delinsACAT MANE Select	ENSP00000299565.5:p.His406=
ENST00000394802.4:c.522+510_522+513delinsACAT
ENST00000559554.5:c.458+759_458+762delinsACAT	ENSP00000453519.1:n.458+759_458+762delinsACAT
ENST00000559576.1:c.145+102_145+105delinsACAT
NM_000745.3:c.1217_1220delinsACAT	NP_000736.2:p.His406=
NM_001307945.1:c.458+759_458+762delinsACAT	NP_001294874.1:n.458+759_458+762delinsACAT
XM_005254142.2:c.707+510_707+513delinsACAT	XP_005254199.1:n.707+510_707+513delinsACAT
NM_001307945.2:c.458+759_458+762delinsACAT	NP_001294874.1:n.458+759_458+762delinsACAT
NM_000745.4:c.1217_1220delinsACAT MANE Select	NP_000736.2:p.His406=
NM_001395171.1:c.1115+102_1115+105delinsACAT	NP_001382100.1:n.1115+102_1115+105delinsACAT
NM_001395172.1:c.591+626_591+629delinsACAT	NP_001382101.1:n.591+626_591+629delinsACAT
NM_001395173.1:c.713+504_713+507delinsACAT	NP_001382102.1:n.713+504_713+507delinsACAT
NM_001395174.1:c.707+510_707+513delinsACAT	NP_001382103.1:n.707+510_707+513delinsACAT
NM_001395175.1:c.455+759_455+762delinsACAT	NP_001382104.1:n.455+759_455+762delinsACAT