Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78594906_78594915delinsCACAGTTAAA , CM000677.2:g.78594906_78594915delinsCACAGTTAAA	GRCh38
NC_000015.9:g.78887248_78887257delinsCACAGTTAAA , CM000677.1:g.78887248_78887257delinsCACAGTTAAA	GRCh37
NC_000015.8:g.76674303_76674312delinsCACAGTTAAA	NCBI36
NG_016143.1:g.31381_31390delinsTTTAACTGTG
NG_023328.1:g.34387_34396delinsCACAGTTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.1653_1662delinsCACAGTTAAA (CHRNA5) MANE Select	ENSP00000299565.5:n.1653_1662delinsCACAGTTAAA
ENST00000348639.7:c.1390-1724_1390-1715delinsTTTAACTGTG (CHRNA3)	ENSP00000267951.4:n.1390-1724_1390-1715delinsTTTAACTGTG
ENST00000559002.5:n.193+1625_193+1634delinsTTTAACTGTG (CHRNA3)
ENST00000559658.5:c.65-904_65-895delinsTTTAACTGTG (CHRNA3)	ENSP00000452896.1:n.65-904_65-895delinsTTTAACTGTG
NM_000745.3:c.1653_1662delinsCACAGTTAAA (CHRNA5)	NP_000736.2:n.1653_1662delinsCACAGTTAAA
NM_001166694.1:c.1390-1724_1390-1715delinsTTTAACTGTG (CHRNA3)	NP_001160166.1:n.1390-1724_1390-1715delinsTTTAACTGTG
NM_001307945.1:c.1790_1799delinsCACAGTTAAA (CHRNA5)	NP_001294874.1:n.1790_1799delinsCACAGTTAAA
NR_046313.1:n.2084-904_2084-895delinsTTTAACTGTG (CHRNA3)
NM_001166694.2:c.1390-1724_1390-1715delinsTTTAACTGTG (CHRNA3)	NP_001160166.1:n.1390-1724_1390-1715delinsTTTAACTGTG
NM_001307945.2:c.1790_1799delinsCACAGTTAAA (CHRNA5)	NP_001294874.1:n.1790_1799delinsCACAGTTAAA
NR_046313.2:n.1785-904_1785-895delinsTTTAACTGTG (CHRNA3)
NM_000745.4:c.1653_1662delinsCACAGTTAAA (CHRNA5) MANE Select	NP_000736.2:n.1653_1662delinsCACAGTTAAA
NM_001395171.1:c.1790_1799delinsCACAGTTAAA (CHRNA5)	NP_001382100.1:n.1790_1799delinsCACAGTTAAA
NM_001395172.1:c.1653_1662delinsCACAGTTAAA (CHRNA5)	NP_001382101.1:n.1653_1662delinsCACAGTTAAA
NM_001395173.1:c.1790_1799delinsCACAGTTAAA (CHRNA5)	NP_001382102.1:n.1790_1799delinsCACAGTTAAA
NM_001395174.1:c.1790_1799delinsCACAGTTAAA (CHRNA5)	NP_001382103.1:n.1790_1799delinsCACAGTTAAA
NM_001395175.1:c.1790_1799delinsCACAGTTAAA (CHRNA5)	NP_001382104.1:n.1790_1799delinsCACAGTTAAA

HGVS	Amino-acid Change
ENST00000299565.9:c.1653_1662delinsCACAGTTAAA (CHRNA5) MANE Select	ENSP00000299565.5:n.1653_1662delinsCACAGTTAAA
ENST00000348639.7:c.1390-1724_1390-1715delinsTTTAACTGTG (CHRNA3)	ENSP00000267951.4:n.1390-1724_1390-1715delinsTTTAACTGTG
ENST00000559002.5:n.193+1625_193+1634delinsTTTAACTGTG (CHRNA3)
ENST00000559658.5:c.65-904_65-895delinsTTTAACTGTG (CHRNA3)	ENSP00000452896.1:n.65-904_65-895delinsTTTAACTGTG
NM_000745.3:c.1653_1662delinsCACAGTTAAA (CHRNA5)	NP_000736.2:n.1653_1662delinsCACAGTTAAA
NM_001166694.1:c.1390-1724_1390-1715delinsTTTAACTGTG (CHRNA3)	NP_001160166.1:n.1390-1724_1390-1715delinsTTTAACTGTG
NM_001307945.1:c.1790_1799delinsCACAGTTAAA (CHRNA5)	NP_001294874.1:n.1790_1799delinsCACAGTTAAA
NR_046313.1:n.2084-904_2084-895delinsTTTAACTGTG (CHRNA3)
NM_001166694.2:c.1390-1724_1390-1715delinsTTTAACTGTG (CHRNA3)	NP_001160166.1:n.1390-1724_1390-1715delinsTTTAACTGTG
NM_001307945.2:c.1790_1799delinsCACAGTTAAA (CHRNA5)	NP_001294874.1:n.1790_1799delinsCACAGTTAAA
NR_046313.2:n.1785-904_1785-895delinsTTTAACTGTG (CHRNA3)
NM_000745.4:c.1653_1662delinsCACAGTTAAA (CHRNA5) MANE Select	NP_000736.2:n.1653_1662delinsCACAGTTAAA
NM_001395171.1:c.1790_1799delinsCACAGTTAAA (CHRNA5)	NP_001382100.1:n.1790_1799delinsCACAGTTAAA
NM_001395172.1:c.1653_1662delinsCACAGTTAAA (CHRNA5)	NP_001382101.1:n.1653_1662delinsCACAGTTAAA
NM_001395173.1:c.1790_1799delinsCACAGTTAAA (CHRNA5)	NP_001382102.1:n.1790_1799delinsCACAGTTAAA
NM_001395174.1:c.1790_1799delinsCACAGTTAAA (CHRNA5)	NP_001382103.1:n.1790_1799delinsCACAGTTAAA
NM_001395175.1:c.1790_1799delinsCACAGTTAAA (CHRNA5)	NP_001382104.1:n.1790_1799delinsCACAGTTAAA