Canonical Allele Identifier: CA2189597858

Gene: CHRNA5 CHRNA3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78594570_78594572delinsCAA , CM000677.2:g.78594570_78594572delinsCAA	GRCh38
NC_000015.9:g.78886912_78886914delinsCAA , CM000677.1:g.78886912_78886914delinsCAA	GRCh37
NC_000015.8:g.76673967_76673969delinsCAA	NCBI36
NG_016143.1:g.31724_31726delinsTTG
NG_023328.1:g.34051_34053delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.*1317_*1319delinsCAA (CHRNA5) MANE Select	ENSP00000299565.5:n.*1317_*1319delinsCAA
ENST00000348639.7:c.1390-1381_1390-1379delinsTTG (CHRNA3)	ENSP00000267951.4:n.1390-1381_1390-1379delinsTTG
ENST00000559002.5:n.194-1381_194-1379delinsTTG (CHRNA3)
ENST00000559658.5:c.*65-561_*65-559delinsTTG (CHRNA3)	ENSP00000452896.1:n.*65-561_*65-559delinsTTG
NM_000745.3:c.*1317_*1319delinsCAA (CHRNA5)	NP_000736.2:n.*1317_*1319delinsCAA
NM_001166694.1:c.1390-1381_1390-1379delinsTTG (CHRNA3)	NP_001160166.1:n.1390-1381_1390-1379delinsTTG
NM_001307945.1:c.*1454_*1456delinsCAA (CHRNA5)	NP_001294874.1:n.*1454_*1456delinsCAA
NR_046313.1:n.2084-561_2084-559delinsTTG (CHRNA3)
NM_001166694.2:c.1390-1381_1390-1379delinsTTG (CHRNA3)	NP_001160166.1:n.1390-1381_1390-1379delinsTTG
NM_001307945.2:c.*1454_*1456delinsCAA (CHRNA5)	NP_001294874.1:n.*1454_*1456delinsCAA
NR_046313.2:n.1785-561_1785-559delinsTTG (CHRNA3)
NM_000745.4:c.*1317_*1319delinsCAA (CHRNA5) MANE Select	NP_000736.2:n.*1317_*1319delinsCAA
NM_001395171.1:c.*1454_*1456delinsCAA (CHRNA5)	NP_001382100.1:n.*1454_*1456delinsCAA
NM_001395172.1:c.*1317_*1319delinsCAA (CHRNA5)	NP_001382101.1:n.*1317_*1319delinsCAA
NM_001395173.1:c.*1454_*1456delinsCAA (CHRNA5)	NP_001382102.1:n.*1454_*1456delinsCAA
NM_001395174.1:c.*1454_*1456delinsCAA (CHRNA5)	NP_001382103.1:n.*1454_*1456delinsCAA
NM_001395175.1:c.*1454_*1456delinsCAA (CHRNA5)	NP_001382104.1:n.*1454_*1456delinsCAA