Canonical Allele Identifier: CA971788525
Gene: CHRNA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78588944_78588950del , CM000677.2:g.78588944_78588950del GRCh38
NC_000015.9:g.78881286_78881292del , CM000677.1:g.78881286_78881292del GRCh37
NC_000015.8:g.76668341_76668347del NCBI36
NG_023328.1:g.28425_28431del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.413+521_413+527del MANE Select ENSP00000299565.5:n.413+521_413+527del
ENST00000394802.4:c.228+521_228+527del
ENST00000559554.5:c.413+521_413+527del ENSP00000453519.1:n.413+521_413+527del
NM_000745.3:c.413+521_413+527del NP_000736.2:n.413+521_413+527del
NM_001307945.1:c.413+521_413+527del NP_001294874.1:n.413+521_413+527del
XM_005254142.2:c.413+521_413+527del XP_005254199.1:n.413+521_413+527del
NM_001307945.2:c.413+521_413+527del NP_001294874.1:n.413+521_413+527del
NM_000745.4:c.413+521_413+527del MANE Select NP_000736.2:n.413+521_413+527del
NM_001395171.1:c.413+521_413+527del NP_001382100.1:n.413+521_413+527del
NM_001395172.1:c.413+521_413+527del NP_001382101.1:n.413+521_413+527del
NM_001395173.1:c.413+521_413+527del NP_001382102.1:n.413+521_413+527del
NM_001395174.1:c.413+521_413+527del NP_001382103.1:n.413+521_413+527del
NM_001395175.1:c.410+521_410+527del NP_001382104.1:n.410+521_410+527del