Canonical Allele Identifier: CA2189598062

Gene: CHRNA5 CHRNA3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78594786_78594788delinsTTC , CM000677.2:g.78594786_78594788delinsTTC	GRCh38
NC_000015.9:g.78887128_78887130delinsTTC , CM000677.1:g.78887128_78887130delinsTTC	GRCh37
NC_000015.8:g.76674183_76674185delinsTTC	NCBI36
NG_016143.1:g.31508_31510delinsGAA
NG_023328.1:g.34267_34269delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.*1533_*1535delinsTTC (CHRNA5) MANE Select	ENSP00000299565.5:n.*1533_*1535delinsTTC
ENST00000348639.7:c.1390-1597_1390-1595delinsGAA (CHRNA3)	ENSP00000267951.4:n.1390-1597_1390-1595delinsGAA
ENST00000559002.5:n.194-1597_194-1595delinsGAA (CHRNA3)
ENST00000559658.5:c.*65-777_*65-775delinsGAA (CHRNA3)	ENSP00000452896.1:n.*65-777_*65-775delinsGAA
NM_000745.3:c.*1533_*1535delinsTTC (CHRNA5)	NP_000736.2:n.*1533_*1535delinsTTC
NM_001166694.1:c.1390-1597_1390-1595delinsGAA (CHRNA3)	NP_001160166.1:n.1390-1597_1390-1595delinsGAA
NM_001307945.1:c.*1670_*1672delinsTTC (CHRNA5)	NP_001294874.1:n.*1670_*1672delinsTTC
NR_046313.1:n.2084-777_2084-775delinsGAA (CHRNA3)
NM_001166694.2:c.1390-1597_1390-1595delinsGAA (CHRNA3)	NP_001160166.1:n.1390-1597_1390-1595delinsGAA
NM_001307945.2:c.*1670_*1672delinsTTC (CHRNA5)	NP_001294874.1:n.*1670_*1672delinsTTC
NR_046313.2:n.1785-777_1785-775delinsGAA (CHRNA3)
NM_000745.4:c.*1533_*1535delinsTTC (CHRNA5) MANE Select	NP_000736.2:n.*1533_*1535delinsTTC
NM_001395171.1:c.*1670_*1672delinsTTC (CHRNA5)	NP_001382100.1:n.*1670_*1672delinsTTC
NM_001395172.1:c.*1533_*1535delinsTTC (CHRNA5)	NP_001382101.1:n.*1533_*1535delinsTTC
NM_001395173.1:c.*1670_*1672delinsTTC (CHRNA5)	NP_001382102.1:n.*1670_*1672delinsTTC
NM_001395174.1:c.*1670_*1672delinsTTC (CHRNA5)	NP_001382103.1:n.*1670_*1672delinsTTC
NM_001395175.1:c.*1670_*1672delinsTTC (CHRNA5)	NP_001382104.1:n.*1670_*1672delinsTTC