Canonical Allele Identifier: CA2189597787

Gene: CHRNA5 CHRNA3

Linked Data

• dbSNP Id: rs2053067405

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78594517_78594519del , CM000677.2:g.78594517_78594519del	GRCh38
NC_000015.9:g.78886859_78886861del , CM000677.1:g.78886859_78886861del	GRCh37
NC_000015.8:g.76673914_76673916del	NCBI36
NG_016143.1:g.31779_31781del
NG_023328.1:g.33998_34000del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299565.9:c.*1264_*1266del (CHRNA5) MANE Select	ENSP00000299565.5:n.*1264_*1266del
ENST00000348639.7:c.1390-1326_1390-1324del (CHRNA3)	ENSP00000267951.4:n.1390-1326_1390-1324del
ENST00000559002.5:n.194-1326_194-1324del (CHRNA3)
ENST00000559658.5:c.*65-506_*65-504del (CHRNA3)	ENSP00000452896.1:n.*65-506_*65-504del
NM_000745.3:c.*1264_*1266del (CHRNA5)	NP_000736.2:n.*1264_*1266del
NM_001166694.1:c.1390-1326_1390-1324del (CHRNA3)	NP_001160166.1:n.1390-1326_1390-1324del
NM_001307945.1:c.*1401_*1403del (CHRNA5)	NP_001294874.1:n.*1401_*1403del
NR_046313.1:n.2084-506_2084-504del (CHRNA3)
NM_001166694.2:c.1390-1326_1390-1324del (CHRNA3)	NP_001160166.1:n.1390-1326_1390-1324del
NM_001307945.2:c.*1401_*1403del (CHRNA5)	NP_001294874.1:n.*1401_*1403del
NR_046313.2:n.1785-506_1785-504del (CHRNA3)
NM_000745.4:c.*1264_*1266del (CHRNA5) MANE Select	NP_000736.2:n.*1264_*1266del
NM_001395171.1:c.*1401_*1403del (CHRNA5)	NP_001382100.1:n.*1401_*1403del
NM_001395172.1:c.*1264_*1266del (CHRNA5)	NP_001382101.1:n.*1264_*1266del
NM_001395173.1:c.*1401_*1403del (CHRNA5)	NP_001382102.1:n.*1401_*1403del
NM_001395174.1:c.*1401_*1403del (CHRNA5)	NP_001382103.1:n.*1401_*1403del
NM_001395175.1:c.*1401_*1403del (CHRNA5)	NP_001382104.1:n.*1401_*1403del