Canonical Allele Identifier: CA2629788578

Gene: CHRNA5

Linked Data

• gnomAD v4: 15-78590588-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78590589del , CM000677.2:g.78590589del	GRCh38
NC_000015.9:g.78882931del , CM000677.1:g.78882931del	GRCh37
NC_000015.8:g.76669986del	NCBI36
NG_023328.1:g.30070del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299565.9:c.1198del MANE Select	ENSP00000299565.5:p.Ile400PhefsTer9
ENST00000394802.4:c.522+491del
ENST00000559554.5:c.458+740del	ENSP00000453519.1:n.458+740del
ENST00000559576.1:c.145+83del
NM_000745.3:c.1198del	NP_000736.2:p.Ile400PhefsTer9
NM_001307945.1:c.458+740del	NP_001294874.1:n.458+740del
XM_005254142.2:c.707+491del	XP_005254199.1:n.707+491del
NM_001307945.2:c.458+740del	NP_001294874.1:n.458+740del
NM_000745.4:c.1198del MANE Select	NP_000736.2:p.Ile400PhefsTer9
NM_001395171.1:c.1115+83del	NP_001382100.1:n.1115+83del
NM_001395172.1:c.591+607del	NP_001382101.1:n.591+607del
NM_001395173.1:c.713+485del	NP_001382102.1:n.713+485del
NM_001395174.1:c.707+491del	NP_001382103.1:n.707+491del
NM_001395175.1:c.455+740del	NP_001382104.1:n.455+740del