Canonical Allele Identifier: CA715959096
Gene: CHRNA5 HGNC NCBI
CHRNA3 HGNC NCBI

Linked Data

dbSNP Id: rs1217298268

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78594761_78594763dup , CM000677.2:g.78594761_78594763dup GRCh38
NC_000015.9:g.78887103_78887105dup , CM000677.1:g.78887103_78887105dup GRCh37
NC_000015.8:g.76674158_76674160dup NCBI36
NG_016143.1:g.31534_31536dup
NG_023328.1:g.34242_34244dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.*1508_*1510dup (CHRNA5) MANE Select ENSP00000299565.5:n.*1508_*1510dup
ENST00000348639.7:c.1390-1571_1390-1569dup (CHRNA3) ENSP00000267951.4:n.1390-1571_1390-1569dup
ENST00000559002.5:n.194-1571_194-1569dup (CHRNA3)
ENST00000559658.5:c.*65-751_*65-749dup (CHRNA3) ENSP00000452896.1:n.*65-751_*65-749dup
NM_000745.3:c.*1508_*1510dup (CHRNA5) NP_000736.2:n.*1508_*1510dup
NM_001166694.1:c.1390-1571_1390-1569dup (CHRNA3) NP_001160166.1:n.1390-1571_1390-1569dup
NM_001307945.1:c.*1645_*1647dup (CHRNA5) NP_001294874.1:n.*1645_*1647dup
NR_046313.1:n.2084-751_2084-749dup (CHRNA3)
NM_001166694.2:c.1390-1571_1390-1569dup (CHRNA3) NP_001160166.1:n.1390-1571_1390-1569dup
NM_001307945.2:c.*1645_*1647dup (CHRNA5) NP_001294874.1:n.*1645_*1647dup
NR_046313.2:n.1785-751_1785-749dup (CHRNA3)
NM_000745.4:c.*1508_*1510dup (CHRNA5) MANE Select NP_000736.2:n.*1508_*1510dup
NM_001395171.1:c.*1645_*1647dup (CHRNA5) NP_001382100.1:n.*1645_*1647dup
NM_001395172.1:c.*1508_*1510dup (CHRNA5) NP_001382101.1:n.*1508_*1510dup
NM_001395173.1:c.*1645_*1647dup (CHRNA5) NP_001382102.1:n.*1645_*1647dup
NM_001395174.1:c.*1645_*1647dup (CHRNA5) NP_001382103.1:n.*1645_*1647dup
NM_001395175.1:c.*1645_*1647dup (CHRNA5) NP_001382104.1:n.*1645_*1647dup