Canonical Allele Identifier: CA2629791260

Gene: CHRNA5 CHRNA3

Linked Data

• gnomAD v4: 15-78594712-ACAATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78594713_78594717del , CM000677.2:g.78594713_78594717del	GRCh38
NC_000015.9:g.78887055_78887059del , CM000677.1:g.78887055_78887059del	GRCh37
NC_000015.8:g.76674110_76674114del	NCBI36
NG_016143.1:g.31579_31583del
NG_023328.1:g.34194_34198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.*1460_*1464del (CHRNA5) MANE Select	ENSP00000299565.5:n.*1460_*1464del
ENST00000348639.7:c.1390-1526_1390-1522del (CHRNA3)	ENSP00000267951.4:n.1390-1526_1390-1522del
ENST00000559002.5:n.194-1526_194-1522del (CHRNA3)
ENST00000559658.5:c.*65-706_*65-702del (CHRNA3)	ENSP00000452896.1:n.*65-706_*65-702del
NM_000745.3:c.*1460_*1464del (CHRNA5)	NP_000736.2:n.*1460_*1464del
NM_001166694.1:c.1390-1526_1390-1522del (CHRNA3)	NP_001160166.1:n.1390-1526_1390-1522del
NM_001307945.1:c.*1597_*1601del (CHRNA5)	NP_001294874.1:n.*1597_*1601del
NR_046313.1:n.2084-706_2084-702del (CHRNA3)
NM_001166694.2:c.1390-1526_1390-1522del (CHRNA3)	NP_001160166.1:n.1390-1526_1390-1522del
NM_001307945.2:c.*1597_*1601del (CHRNA5)	NP_001294874.1:n.*1597_*1601del
NR_046313.2:n.1785-706_1785-702del (CHRNA3)
NM_000745.4:c.*1460_*1464del (CHRNA5) MANE Select	NP_000736.2:n.*1460_*1464del
NM_001395171.1:c.*1597_*1601del (CHRNA5)	NP_001382100.1:n.*1597_*1601del
NM_001395172.1:c.*1460_*1464del (CHRNA5)	NP_001382101.1:n.*1460_*1464del
NM_001395173.1:c.*1597_*1601del (CHRNA5)	NP_001382102.1:n.*1597_*1601del
NM_001395174.1:c.*1597_*1601del (CHRNA5)	NP_001382103.1:n.*1597_*1601del
NM_001395175.1:c.*1597_*1601del (CHRNA5)	NP_001382104.1:n.*1597_*1601del