Canonical Allele Identifier: CA2189597167
Gene: CHRNA5 HGNC NCBI
CHRNA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78593873_78593874delinsTC , CM000677.2:g.78593873_78593874delinsTC GRCh38
NC_000015.9:g.78886215_78886216delinsTC , CM000677.1:g.78886215_78886216delinsTC GRCh37
NC_000015.8:g.76673270_76673271delinsTC NCBI36
NG_016143.1:g.32422_32423delinsGA
NG_023328.1:g.33354_33355delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000299565.9:c.*620_*621delinsTC (CHRNA5) MANE Select ENSP00000299565.5:n.*620_*621delinsTC
ENST00000348639.7:c.1390-683_1390-682delinsGA (CHRNA3) ENSP00000267951.4:n.1390-683_1390-682deli...
ENST00000559002.5:n.194-683_194-682delinsGA (CHRNA3)
ENST00000559658.5:c.*162+40_*162+41delinsGA (CHRNA3) ENSP00000452896.1:n.*162+40_*162+41delins...
NM_000745.3:c.*620_*621delinsTC (CHRNA5) NP_000736.2:n.*620_*621delinsTC
NM_001166694.1:c.1390-683_1390-682delinsGA (CHRNA3) NP_001160166.1:n.1390-683_1390-682delinsG...
NM_001307945.1:c.*757_*758delinsTC (CHRNA5) NP_001294874.1:n.*757_*758delinsTC
NR_046313.1:n.2181+40_2181+41delinsGA (CHRNA3)
NM_001166694.2:c.1390-683_1390-682delinsGA (CHRNA3) NP_001160166.1:n.1390-683_1390-682delinsG...
NM_001307945.2:c.*757_*758delinsTC (CHRNA5) NP_001294874.1:n.*757_*758delinsTC
NR_046313.2:n.1882+40_1882+41delinsGA (CHRNA3)
NM_000745.4:c.*620_*621delinsTC (CHRNA5) MANE Select NP_000736.2:n.*620_*621delinsTC
NM_001395171.1:c.*757_*758delinsTC (CHRNA5) NP_001382100.1:n.*757_*758delinsTC
NM_001395172.1:c.*620_*621delinsTC (CHRNA5) NP_001382101.1:n.*620_*621delinsTC
NM_001395173.1:c.*757_*758delinsTC (CHRNA5) NP_001382102.1:n.*757_*758delinsTC
NM_001395174.1:c.*757_*758delinsTC (CHRNA5) NP_001382103.1:n.*757_*758delinsTC
NM_001395175.1:c.*757_*758delinsTC (CHRNA5) NP_001382104.1:n.*757_*758delinsTC