Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78594815_78594823delinsATAGAATCT , CM000677.2:g.78594815_78594823delinsATAGAATCT	GRCh38
NC_000015.9:g.78887157_78887165delinsATAGAATCT , CM000677.1:g.78887157_78887165delinsATAGAATCT	GRCh37
NC_000015.8:g.76674212_76674220delinsATAGAATCT	NCBI36
NG_016143.1:g.31473_31481delinsAGATTCTAT
NG_023328.1:g.34296_34304delinsATAGAATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.1562_1570delinsATAGAATCT (CHRNA5) MANE Select	ENSP00000299565.5:n.1562_1570delinsATAGAATCT
ENST00000348639.7:c.1390-1632_1390-1624delinsAGATTCTAT (CHRNA3)	ENSP00000267951.4:n.1390-1632_1390-1624delinsAGATTCTAT
ENST00000559002.5:n.194-1632_194-1624delinsAGATTCTAT (CHRNA3)
ENST00000559658.5:c.65-812_65-804delinsAGATTCTAT (CHRNA3)	ENSP00000452896.1:n.65-812_65-804delinsAGATTCTAT
NM_000745.3:c.1562_1570delinsATAGAATCT (CHRNA5)	NP_000736.2:n.1562_1570delinsATAGAATCT
NM_001166694.1:c.1390-1632_1390-1624delinsAGATTCTAT (CHRNA3)	NP_001160166.1:n.1390-1632_1390-1624delinsAGATTCTAT
NM_001307945.1:c.1699_1707delinsATAGAATCT (CHRNA5)	NP_001294874.1:n.1699_1707delinsATAGAATCT
NR_046313.1:n.2084-812_2084-804delinsAGATTCTAT (CHRNA3)
NM_001166694.2:c.1390-1632_1390-1624delinsAGATTCTAT (CHRNA3)	NP_001160166.1:n.1390-1632_1390-1624delinsAGATTCTAT
NM_001307945.2:c.1699_1707delinsATAGAATCT (CHRNA5)	NP_001294874.1:n.1699_1707delinsATAGAATCT
NR_046313.2:n.1785-812_1785-804delinsAGATTCTAT (CHRNA3)
NM_000745.4:c.1562_1570delinsATAGAATCT (CHRNA5) MANE Select	NP_000736.2:n.1562_1570delinsATAGAATCT
NM_001395171.1:c.1699_1707delinsATAGAATCT (CHRNA5)	NP_001382100.1:n.1699_1707delinsATAGAATCT
NM_001395172.1:c.1562_1570delinsATAGAATCT (CHRNA5)	NP_001382101.1:n.1562_1570delinsATAGAATCT
NM_001395173.1:c.1699_1707delinsATAGAATCT (CHRNA5)	NP_001382102.1:n.1699_1707delinsATAGAATCT
NM_001395174.1:c.1699_1707delinsATAGAATCT (CHRNA5)	NP_001382103.1:n.1699_1707delinsATAGAATCT
NM_001395175.1:c.1699_1707delinsATAGAATCT (CHRNA5)	NP_001382104.1:n.1699_1707delinsATAGAATCT

HGVS	Amino-acid Change
ENST00000299565.9:c.1562_1570delinsATAGAATCT (CHRNA5) MANE Select	ENSP00000299565.5:n.1562_1570delinsATAGAATCT
ENST00000348639.7:c.1390-1632_1390-1624delinsAGATTCTAT (CHRNA3)	ENSP00000267951.4:n.1390-1632_1390-1624delinsAGATTCTAT
ENST00000559002.5:n.194-1632_194-1624delinsAGATTCTAT (CHRNA3)
ENST00000559658.5:c.65-812_65-804delinsAGATTCTAT (CHRNA3)	ENSP00000452896.1:n.65-812_65-804delinsAGATTCTAT
NM_000745.3:c.1562_1570delinsATAGAATCT (CHRNA5)	NP_000736.2:n.1562_1570delinsATAGAATCT
NM_001166694.1:c.1390-1632_1390-1624delinsAGATTCTAT (CHRNA3)	NP_001160166.1:n.1390-1632_1390-1624delinsAGATTCTAT
NM_001307945.1:c.1699_1707delinsATAGAATCT (CHRNA5)	NP_001294874.1:n.1699_1707delinsATAGAATCT
NR_046313.1:n.2084-812_2084-804delinsAGATTCTAT (CHRNA3)
NM_001166694.2:c.1390-1632_1390-1624delinsAGATTCTAT (CHRNA3)	NP_001160166.1:n.1390-1632_1390-1624delinsAGATTCTAT
NM_001307945.2:c.1699_1707delinsATAGAATCT (CHRNA5)	NP_001294874.1:n.1699_1707delinsATAGAATCT
NR_046313.2:n.1785-812_1785-804delinsAGATTCTAT (CHRNA3)
NM_000745.4:c.1562_1570delinsATAGAATCT (CHRNA5) MANE Select	NP_000736.2:n.1562_1570delinsATAGAATCT
NM_001395171.1:c.1699_1707delinsATAGAATCT (CHRNA5)	NP_001382100.1:n.1699_1707delinsATAGAATCT
NM_001395172.1:c.1562_1570delinsATAGAATCT (CHRNA5)	NP_001382101.1:n.1562_1570delinsATAGAATCT
NM_001395173.1:c.1699_1707delinsATAGAATCT (CHRNA5)	NP_001382102.1:n.1699_1707delinsATAGAATCT
NM_001395174.1:c.1699_1707delinsATAGAATCT (CHRNA5)	NP_001382103.1:n.1699_1707delinsATAGAATCT
NM_001395175.1:c.1699_1707delinsATAGAATCT (CHRNA5)	NP_001382104.1:n.1699_1707delinsATAGAATCT