Canonical Allele Identifier: CA619234668

Gene: CHRNA5 CHRNA3

Linked Data

• dbSNP Id: rs1210652919
• gnomAD v2: 15-78886026-TACTGC-T
• gnomAD v3: 15-78593684-TACTGC-T
• gnomAD v4: 15-78593684-TACTGC-T
• MyVariant Identifiers: chr15:g.78886027_78886031del (hg19) ; chr15:g.78593685_78593689del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78593685_78593689del , CM000677.2:g.78593685_78593689del	GRCh38
NC_000015.9:g.78886027_78886031del , CM000677.1:g.78886027_78886031del	GRCh37
NC_000015.8:g.76673082_76673086del	NCBI36
NG_016143.1:g.32607_32611del
NG_023328.1:g.33166_33170del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299565.9:c.*432_*436del (CHRNA5) MANE Select	ENSP00000299565.5:n.*432_*436del
ENST00000348639.7:c.1390-498_1390-494del (CHRNA3)	ENSP00000267951.4:n.1390-498_1390-494del
ENST00000559002.5:n.194-498_194-494del (CHRNA3)
ENST00000559576.1:c.739_743del (CHRNA5)
ENST00000559658.5:c.*162+225_*162+229del (CHRNA3)	ENSP00000452896.1:n.*162+225_*162+229del
NM_000745.3:c.*432_*436del (CHRNA5)	NP_000736.2:n.*432_*436del
NM_001166694.1:c.1390-498_1390-494del (CHRNA3)	NP_001160166.1:n.1390-498_1390-494del
NM_001307945.1:c.*569_*573del (CHRNA5)	NP_001294874.1:n.*569_*573del
NR_046313.1:n.2181+225_2181+229del (CHRNA3)
NM_001166694.2:c.1390-498_1390-494del (CHRNA3)	NP_001160166.1:n.1390-498_1390-494del
NM_001307945.2:c.*569_*573del (CHRNA5)	NP_001294874.1:n.*569_*573del
NR_046313.2:n.1882+225_1882+229del (CHRNA3)
NM_000745.4:c.*432_*436del (CHRNA5) MANE Select	NP_000736.2:n.*432_*436del
NM_001395171.1:c.*569_*573del (CHRNA5)	NP_001382100.1:n.*569_*573del
NM_001395172.1:c.*432_*436del (CHRNA5)	NP_001382101.1:n.*432_*436del
NM_001395173.1:c.*569_*573del (CHRNA5)	NP_001382102.1:n.*569_*573del
NM_001395174.1:c.*569_*573del (CHRNA5)	NP_001382103.1:n.*569_*573del
NM_001395175.1:c.*569_*573del (CHRNA5)	NP_001382104.1:n.*569_*573del