Canonical Allele Identifier: CA2189591949
Gene: CHRNA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78589442_78589454delinsGGAGTCTAGGAGT , CM000677.2:g.78589442_78589454delinsGGAGTCTAGGAGT GRCh38
NC_000015.9:g.78881784_78881796delinsGGAGTCTAGGAGT , CM000677.1:g.78881784_78881796delinsGGAGTCTAGGAGT GRCh37
NC_000015.8:g.76668839_76668851delinsGGAGTCTAGGAGT NCBI36
NG_023328.1:g.28923_28935delinsGGAGTCTAGGAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.414-363_414-351delinsGGAGTCTAGGAGT MANE Select ENSP00000299565.5:n.414-363_414-351delinsGGAGTCTAGGAGT
ENST00000394802.4:c.229-363_229-351delinsGGAGTCTAGGAGT
ENST00000559554.5:c.414-363_414-351delinsGGAGTCTAGGAGT ENSP00000453519.1:n.414-363_414-351delinsGGAGTCTAGGAGT
NM_000745.3:c.414-363_414-351delinsGGAGTCTAGGAGT NP_000736.2:n.414-363_414-351delinsGGAGTCTAGGAGT
NM_001307945.1:c.414-363_414-351delinsGGAGTCTAGGAGT NP_001294874.1:n.414-363_414-351delinsGGAGTCTAGGAGT
XM_005254142.2:c.414-363_414-351delinsGGAGTCTAGGAGT XP_005254199.1:n.414-363_414-351delinsGGAGTCTAGGAGT
NM_001307945.2:c.414-363_414-351delinsGGAGTCTAGGAGT NP_001294874.1:n.414-363_414-351delinsGGAGTCTAGGAGT
NM_000745.4:c.414-363_414-351delinsGGAGTCTAGGAGT MANE Select NP_000736.2:n.414-363_414-351delinsGGAGTCTAGGAGT
NM_001395171.1:c.414-363_414-351delinsGGAGTCTAGGAGT NP_001382100.1:n.414-363_414-351delinsGGAGTCTAGGAGT
NM_001395172.1:c.414-363_414-351delinsGGAGTCTAGGAGT NP_001382101.1:n.414-363_414-351delinsGGAGTCTAGGAGT
NM_001395173.1:c.414-363_414-351delinsGGAGTCTAGGAGT NP_001382102.1:n.414-363_414-351delinsGGAGTCTAGGAGT
NM_001395174.1:c.414-363_414-351delinsGGAGTCTAGGAGT NP_001382103.1:n.414-363_414-351delinsGGAGTCTAGGAGT
NM_001395175.1:c.411-363_411-351delinsGGAGTCTAGGAGT NP_001382104.1:n.411-363_411-351delinsGGAGTCTAGGAGT