Canonical Allele Identifier: CA2580090048
Community Standard Title: NM_000743.5(CHRNA3):c.518_519del (p.Cys173TyrfsTer11)
Gene: CHRNA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78602124_78602125del , CM000677.2:g.78602124_78602125del GRCh38
NC_000015.9:g.78894466_78894467del , CM000677.1:g.78894466_78894467del GRCh37
NC_000015.8:g.76681521_76681522del NCBI36
NG_016143.1:g.24172_24173del

Transcript Alleles

HGVS Amino-acid Change
NM_000743.5:c.518_519del MANE Select NP_000734.2:p.Cys173TyrfsTer11
ENST00000326828.6:c.518_519del MANE Select ENSP00000315602.5:p.Cys173TyrfsTer11
NM_000743.4:c.518_519del NP_000734.2:p.Cys173TyrfsTer11
NM_001166694.1:c.518_519del NP_001160166.1:p.Cys173TyrfsTer11
NM_001166694.2:c.518_519del NP_001160166.1:p.Cys173TyrfsTer11
NR_046313.1:n.1019_1020del
NR_046313.2:n.720_721del
ENST00000326828.5:c.518_519del ENSP00000315602.5:p.Cys173TyrfsTer11
ENST00000348639.7:c.518_519del ENSP00000267951.4:p.Cys173TyrfsTer11
ENST00000558903.1:n.225_226del
ENST00000559658.5:c.518_519del ENSP00000452896.1:p.Cys173TyrfsTer11
XM_006720382.1:c.317_318del XP_006720445.1:p.Cys106TyrfsTer11
XM_006720382.3:c.317_318del XP_006720445.1:p.Cys106TyrfsTer11
XM_011521173.1:c.437_438del XP_011519475.1:p.Cys146TyrfsTer11