Canonical Allele Identifier: CA2189598126
Gene: CHRNA5 HGNC NCBI
CHRNA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78594856_78594858delinsCTT , CM000677.2:g.78594856_78594858delinsCTT GRCh38
NC_000015.9:g.78887198_78887200delinsCTT , CM000677.1:g.78887198_78887200delinsCTT GRCh37
NC_000015.8:g.76674253_76674255delinsCTT NCBI36
NG_016143.1:g.31438_31440delinsAAG
NG_023328.1:g.34337_34339delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.*1603_*1605delinsCTT (CHRNA5) MANE Select ENSP00000299565.5:n.*1603_*1605delinsCTT
ENST00000348639.7:c.1390-1667_1390-1665delinsAAG (CHRNA3) ENSP00000267951.4:n.1390-1667_1390-1665delinsAAG
ENST00000559002.5:n.194-1667_194-1665delinsAAG (CHRNA3)
ENST00000559658.5:c.*65-847_*65-845delinsAAG (CHRNA3) ENSP00000452896.1:n.*65-847_*65-845delinsAAG
NM_000745.3:c.*1603_*1605delinsCTT (CHRNA5) NP_000736.2:n.*1603_*1605delinsCTT
NM_001166694.1:c.1390-1667_1390-1665delinsAAG (CHRNA3) NP_001160166.1:n.1390-1667_1390-1665delinsAAG
NM_001307945.1:c.*1740_*1742delinsCTT (CHRNA5) NP_001294874.1:n.*1740_*1742delinsCTT
NR_046313.1:n.2084-847_2084-845delinsAAG (CHRNA3)
NM_001166694.2:c.1390-1667_1390-1665delinsAAG (CHRNA3) NP_001160166.1:n.1390-1667_1390-1665delinsAAG
NM_001307945.2:c.*1740_*1742delinsCTT (CHRNA5) NP_001294874.1:n.*1740_*1742delinsCTT
NR_046313.2:n.1785-847_1785-845delinsAAG (CHRNA3)
NM_000745.4:c.*1603_*1605delinsCTT (CHRNA5) MANE Select NP_000736.2:n.*1603_*1605delinsCTT
NM_001395171.1:c.*1740_*1742delinsCTT (CHRNA5) NP_001382100.1:n.*1740_*1742delinsCTT
NM_001395172.1:c.*1603_*1605delinsCTT (CHRNA5) NP_001382101.1:n.*1603_*1605delinsCTT
NM_001395173.1:c.*1740_*1742delinsCTT (CHRNA5) NP_001382102.1:n.*1740_*1742delinsCTT
NM_001395174.1:c.*1740_*1742delinsCTT (CHRNA5) NP_001382103.1:n.*1740_*1742delinsCTT
NM_001395175.1:c.*1740_*1742delinsCTT (CHRNA5) NP_001382104.1:n.*1740_*1742delinsCTT