Canonical Allele Identifier: CA2189596998
Gene: CHRNA5 HGNC NCBI
CHRNA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78593702_78593706delinsGCTGA , CM000677.2:g.78593702_78593706delinsGCTGA GRCh38
NC_000015.9:g.78886044_78886048delinsGCTGA , CM000677.1:g.78886044_78886048delinsGCTGA GRCh37
NC_000015.8:g.76673099_76673103delinsGCTGA NCBI36
NG_016143.1:g.32590_32594delinsTCAGC
NG_023328.1:g.33183_33187delinsGCTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.*449_*453delinsGCTGA (CHRNA5) MANE Select ENSP00000299565.5:n.*449_*453delinsGCTGA
ENST00000348639.7:c.1390-515_1390-511delinsTCAGC (CHRNA3) ENSP00000267951.4:n.1390-515_1390-511delinsTCAGC
ENST00000559002.5:n.194-515_194-511delinsTCAGC (CHRNA3)
ENST00000559658.5:c.*162+208_*162+212delinsTCAGC (CHRNA3) ENSP00000452896.1:n.*162+208_*162+212delinsTCAGC
NM_000745.3:c.*449_*453delinsGCTGA (CHRNA5) NP_000736.2:n.*449_*453delinsGCTGA
NM_001166694.1:c.1390-515_1390-511delinsTCAGC (CHRNA3) NP_001160166.1:n.1390-515_1390-511delinsTCAGC
NM_001307945.1:c.*586_*590delinsGCTGA (CHRNA5) NP_001294874.1:n.*586_*590delinsGCTGA
NR_046313.1:n.2181+208_2181+212delinsTCAGC (CHRNA3)
NM_001166694.2:c.1390-515_1390-511delinsTCAGC (CHRNA3) NP_001160166.1:n.1390-515_1390-511delinsTCAGC
NM_001307945.2:c.*586_*590delinsGCTGA (CHRNA5) NP_001294874.1:n.*586_*590delinsGCTGA
NR_046313.2:n.1882+208_1882+212delinsTCAGC (CHRNA3)
NM_000745.4:c.*449_*453delinsGCTGA (CHRNA5) MANE Select NP_000736.2:n.*449_*453delinsGCTGA
NM_001395171.1:c.*586_*590delinsGCTGA (CHRNA5) NP_001382100.1:n.*586_*590delinsGCTGA
NM_001395172.1:c.*449_*453delinsGCTGA (CHRNA5) NP_001382101.1:n.*449_*453delinsGCTGA
NM_001395173.1:c.*586_*590delinsGCTGA (CHRNA5) NP_001382102.1:n.*586_*590delinsGCTGA
NM_001395174.1:c.*586_*590delinsGCTGA (CHRNA5) NP_001382103.1:n.*586_*590delinsGCTGA
NM_001395175.1:c.*586_*590delinsGCTGA (CHRNA5) NP_001382104.1:n.*586_*590delinsGCTGA