Canonical Allele Identifier: CA2189598084
Gene: CHRNA5 HGNC NCBI
CHRNA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78594810_78594813delinsCAAT , CM000677.2:g.78594810_78594813delinsCAAT GRCh38
NC_000015.9:g.78887152_78887155delinsCAAT , CM000677.1:g.78887152_78887155delinsCAAT GRCh37
NC_000015.8:g.76674207_76674210delinsCAAT NCBI36
NG_016143.1:g.31483_31486delinsATTG
NG_023328.1:g.34291_34294delinsCAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.*1557_*1560delinsCAAT (CHRNA5) MANE Select ENSP00000299565.5:n.*1557_*1560delinsCAAT
ENST00000348639.7:c.1390-1622_1390-1619delinsATTG (CHRNA3) ENSP00000267951.4:n.1390-1622_1390-1619delinsATTG
ENST00000559002.5:n.194-1622_194-1619delinsATTG (CHRNA3)
ENST00000559658.5:c.*65-802_*65-799delinsATTG (CHRNA3) ENSP00000452896.1:n.*65-802_*65-799delinsATTG
NM_000745.3:c.*1557_*1560delinsCAAT (CHRNA5) NP_000736.2:n.*1557_*1560delinsCAAT
NM_001166694.1:c.1390-1622_1390-1619delinsATTG (CHRNA3) NP_001160166.1:n.1390-1622_1390-1619delinsATTG
NM_001307945.1:c.*1694_*1697delinsCAAT (CHRNA5) NP_001294874.1:n.*1694_*1697delinsCAAT
NR_046313.1:n.2084-802_2084-799delinsATTG (CHRNA3)
NM_001166694.2:c.1390-1622_1390-1619delinsATTG (CHRNA3) NP_001160166.1:n.1390-1622_1390-1619delinsATTG
NM_001307945.2:c.*1694_*1697delinsCAAT (CHRNA5) NP_001294874.1:n.*1694_*1697delinsCAAT
NR_046313.2:n.1785-802_1785-799delinsATTG (CHRNA3)
NM_000745.4:c.*1557_*1560delinsCAAT (CHRNA5) MANE Select NP_000736.2:n.*1557_*1560delinsCAAT
NM_001395171.1:c.*1694_*1697delinsCAAT (CHRNA5) NP_001382100.1:n.*1694_*1697delinsCAAT
NM_001395172.1:c.*1557_*1560delinsCAAT (CHRNA5) NP_001382101.1:n.*1557_*1560delinsCAAT
NM_001395173.1:c.*1694_*1697delinsCAAT (CHRNA5) NP_001382102.1:n.*1694_*1697delinsCAAT
NM_001395174.1:c.*1694_*1697delinsCAAT (CHRNA5) NP_001382103.1:n.*1694_*1697delinsCAAT
NM_001395175.1:c.*1694_*1697delinsCAAT (CHRNA5) NP_001382104.1:n.*1694_*1697delinsCAAT