Canonical Allele Identifier: CA2629788559

Gene: CHRNA5

Linked Data

• gnomAD v4: 15-78590414-TTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78590417_78590419del , CM000677.2:g.78590417_78590419del	GRCh38
NC_000015.9:g.78882759_78882761del , CM000677.1:g.78882759_78882761del	GRCh37
NC_000015.8:g.76669814_76669816del	NCBI36
NG_023328.1:g.29898_29900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.1026_1028del MANE Select	ENSP00000299565.5:p.Ser343del
ENST00000394802.4:c.522+319_522+321del
ENST00000559554.5:c.458+568_458+570del	ENSP00000453519.1:n.458+568_458+570del
ENST00000559576.1:c.56_58del
NM_000745.3:c.1026_1028del	NP_000736.2:p.Ser343del
NM_001307945.1:c.458+568_458+570del	NP_001294874.1:n.458+568_458+570del
XM_005254142.2:c.707+319_707+321del	XP_005254199.1:n.707+319_707+321del
NM_001307945.2:c.458+568_458+570del	NP_001294874.1:n.458+568_458+570del
NM_000745.4:c.1026_1028del MANE Select	NP_000736.2:p.Ser343del
NM_001395171.1:c.1026_1028del	NP_001382100.1:p.Ser343del
NM_001395172.1:c.591+435_591+437del	NP_001382101.1:n.591+435_591+437del
NM_001395173.1:c.713+313_713+315del	NP_001382102.1:n.713+313_713+315del
NM_001395174.1:c.707+319_707+321del	NP_001382103.1:n.707+319_707+321del
NM_001395175.1:c.455+568_455+570del	NP_001382104.1:n.455+568_455+570del