Canonical Allele Identifier: CA2189590259
Gene: CHRNA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78601939_78601953delinsGCGAGTATGTGATGT , CM000677.2:g.78601939_78601953delinsGCGAGTATGTGATGT GRCh38
NC_000015.9:g.78894281_78894295delinsGCGAGTATGTGATGT , CM000677.1:g.78894281_78894295delinsGCGAGTATGTGATGT GRCh37
NC_000015.8:g.76681336_76681350delinsGCGAGTATGTGATGT NCBI36
NG_016143.1:g.24343_24357delinsACATCACATACTCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000326828.6:c.689_703delinsACATCACATACTCGC MANE Select ENSP00000315602.5:p.Asp230=
ENST00000326828.5:c.689_703delinsACATCACATACTCGC ENSP00000315602.5:p.Asp230=
ENST00000348639.7:c.689_703delinsACATCACATACTCGC ENSP00000267951.4:p.Asp230=
ENST00000558903.1:n.396_410delinsACATCACATACTCGC
ENST00000559658.5:c.689_703delinsACATCACATACTCGC ENSP00000452896.1:p.Asp230=
NM_000743.4:c.689_703delinsACATCACATACTCGC NP_000734.2:p.Asp230=
NM_001166694.1:c.689_703delinsACATCACATACTCGC NP_001160166.1:p.Asp230=
NR_046313.1:n.1190_1204delinsACATCACATACTCGC
XM_006720382.1:c.488_502delinsACATCACATACTCGC XP_006720445.1:p.Asp163=
XM_011521173.1:c.608_622delinsACATCACATACTCGC XP_011519475.1:p.Asp203=
XM_006720382.3:c.488_502delinsACATCACATACTCGC XP_006720445.1:p.Asp163=
NM_000743.5:c.689_703delinsACATCACATACTCGC MANE Select NP_000734.2:p.Asp230=
NM_001166694.2:c.689_703delinsACATCACATACTCGC NP_001160166.1:p.Asp230=
NR_046313.2:n.891_905delinsACATCACATACTCGC