Canonical Allele Identifier: CA2189597032
Gene: CHRNA5 HGNC NCBI
CHRNA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78593747_78593751delinsATTAC , CM000677.2:g.78593747_78593751delinsATTAC GRCh38
NC_000015.9:g.78886089_78886093delinsATTAC , CM000677.1:g.78886089_78886093delinsATTAC GRCh37
NC_000015.8:g.76673144_76673148delinsATTAC NCBI36
NG_016143.1:g.32545_32549delinsGTAAT
NG_023328.1:g.33228_33232delinsATTAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.*494_*498delinsATTAC (CHRNA5) MANE Select ENSP00000299565.5:n.*494_*498delinsATTAC
ENST00000348639.7:c.1390-560_1390-556delinsGTAAT (CHRNA3) ENSP00000267951.4:n.1390-560_1390-556delinsGTAAT
ENST00000559002.5:n.194-560_194-556delinsGTAAT (CHRNA3)
ENST00000559658.5:c.*162+163_*162+167delinsGTAAT (CHRNA3) ENSP00000452896.1:n.*162+163_*162+167delinsGTAAT
NM_000745.3:c.*494_*498delinsATTAC (CHRNA5) NP_000736.2:n.*494_*498delinsATTAC
NM_001166694.1:c.1390-560_1390-556delinsGTAAT (CHRNA3) NP_001160166.1:n.1390-560_1390-556delinsGTAAT
NM_001307945.1:c.*631_*635delinsATTAC (CHRNA5) NP_001294874.1:n.*631_*635delinsATTAC
NR_046313.1:n.2181+163_2181+167delinsGTAAT (CHRNA3)
NM_001166694.2:c.1390-560_1390-556delinsGTAAT (CHRNA3) NP_001160166.1:n.1390-560_1390-556delinsGTAAT
NM_001307945.2:c.*631_*635delinsATTAC (CHRNA5) NP_001294874.1:n.*631_*635delinsATTAC
NR_046313.2:n.1882+163_1882+167delinsGTAAT (CHRNA3)
NM_000745.4:c.*494_*498delinsATTAC (CHRNA5) MANE Select NP_000736.2:n.*494_*498delinsATTAC
NM_001395171.1:c.*631_*635delinsATTAC (CHRNA5) NP_001382100.1:n.*631_*635delinsATTAC
NM_001395172.1:c.*494_*498delinsATTAC (CHRNA5) NP_001382101.1:n.*494_*498delinsATTAC
NM_001395173.1:c.*631_*635delinsATTAC (CHRNA5) NP_001382102.1:n.*631_*635delinsATTAC
NM_001395174.1:c.*631_*635delinsATTAC (CHRNA5) NP_001382103.1:n.*631_*635delinsATTAC
NM_001395175.1:c.*631_*635delinsATTAC (CHRNA5) NP_001382104.1:n.*631_*635delinsATTAC