Canonical Allele Identifier: CA2189593431

Gene: CHRNA5

Linked Data

• dbSNP Id: rs2053001437

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78590379del , CM000677.2:g.78590379del	GRCh38
NC_000015.9:g.78882721del , CM000677.1:g.78882721del	GRCh37
NC_000015.8:g.76669776del	NCBI36
NG_023328.1:g.29860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.988del MANE Select	ENSP00000299565.5:p.Val330Ter
ENST00000394802.4:c.522+281del
ENST00000559554.5:c.458+530del	ENSP00000453519.1:n.458+530del
ENST00000559576.1:c.18del
NM_000745.3:c.988del	NP_000736.2:p.Val330Ter
NM_001307945.1:c.458+530del	NP_001294874.1:n.458+530del
XM_005254142.2:c.707+281del	XP_005254199.1:n.707+281del
NM_001307945.2:c.458+530del	NP_001294874.1:n.458+530del
NM_000745.4:c.988del MANE Select	NP_000736.2:p.Val330Ter
NM_001395171.1:c.988del	NP_001382100.1:p.Val330Ter
NM_001395172.1:c.591+397del	NP_001382101.1:n.591+397del
NM_001395173.1:c.713+275del	NP_001382102.1:n.713+275del
NM_001395174.1:c.707+281del	NP_001382103.1:n.707+281del
NM_001395175.1:c.455+530del	NP_001382104.1:n.455+530del