Canonical Allele Identifier: CA2244609903
Gene: CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898148_4898178delinsCTGGGATCTGCAATGAGTGAGCCTCATGGGG , CM000679.2:g.4898148_4898178delinsCTGGGATCTGCAATGAGTGAGCCTCATGGGG GRCh38
NC_000017.10:g.4801443_4801473delinsCTGGGATCTGCAATGAGTGAGCCTCATGGGG , CM000679.1:g.4801443_4801473delinsCTGGGATCTGCAATGAGTGAGCCTCATGGGG GRCh37
NC_000017.9:g.4742222_4742252delinsCTGGGATCTGCAATGAGTGAGCCTCATGGGG NCBI36
NG_008029.2:g.9898_9928delinsCCCCATGAGGCTCACTCATTGCAGATCCCAG
NG_028005.1:g.69809_69839delinsCTGGGATCTGCAATGAGTGAGCCTCATGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*558_*588delinsCCCCATGAGGCTCACTCATTGCAGATCCCAG MANE Select ENSP00000497829.1:n.*558_*588delinsCCCCATGAGGCTCACTCATTGCAGAT...
ENST00000649830.1:c.*676_*706delinsCCCCATGAGGCTCACTCATTGCAGATCCCAG ENSP00000496907.1:n.*676_*706delinsCCCCATGAGGCTCACTCATTGCAGAT...
ENST00000652550.1:n.1766_1796delinsCCCCATGAGGCTCACTCATTGCAGATCCCAG
ENST00000293780.4:c.*558_*588delinsCCCCATGAGGCTCACTCATTGCAGATCCCAG ENSP00000293780.4:n.*558_*588delinsCCCCATGAGGCTCACTCATTGCAGAT...
ENST00000572438.1:n.1726_1756delinsCCCCATGAGGCTCACTCATTGCAGATCCCAG
NM_000080.3:c.*558_*588delinsCCCCATGAGGCTCACTCATTGCAGATCCCAG NP_000071.1:n.*558_*588delinsCCCCATGAGGCTCACTCATTGCAGATCCCAG
NM_000080.4:c.*558_*588delinsCCCCATGAGGCTCACTCATTGCAGATCCCAG MANE Select NP_000071.1:n.*558_*588delinsCCCCATGAGGCTCACTCATTGCAGATCCCAG
XM_017024115.1:c.*558_*588delinsCCCCATGAGGCTCACTCATTGCAGATCCCAG XP_016879604.1:n.*558_*588delinsCCCCATGAGGCTCACTCATTGCAGATCCC...