Canonical Allele Identifier: CA2523662788
Gene: CHRNA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78586744_78586747del , CM000677.2:g.78586744_78586747del GRCh38
NC_000015.9:g.78879086_78879089del , CM000677.1:g.78879086_78879089del GRCh37
NC_000015.8:g.76666141_76666144del NCBI36
NG_023328.1:g.26225_26228del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.303+55_303+58del MANE Select ENSP00000299565.5:n.303+55_303+58del
ENST00000394802.4:c.118+55_118+58del
ENST00000559554.5:c.303+55_303+58del ENSP00000453519.1:n.303+55_303+58del
NM_000745.3:c.303+55_303+58del NP_000736.2:n.303+55_303+58del
NM_001307945.1:c.303+55_303+58del NP_001294874.1:n.303+55_303+58del
XM_005254142.2:c.303+55_303+58del XP_005254199.1:n.303+55_303+58del
NM_001307945.2:c.303+55_303+58del NP_001294874.1:n.303+55_303+58del
NM_000745.4:c.303+55_303+58del MANE Select NP_000736.2:n.303+55_303+58del
NM_001395171.1:c.303+55_303+58del NP_001382100.1:n.303+55_303+58del
NM_001395172.1:c.303+55_303+58del NP_001382101.1:n.303+55_303+58del
NM_001395173.1:c.303+55_303+58del NP_001382102.1:n.303+55_303+58del
NM_001395174.1:c.303+55_303+58del NP_001382103.1:n.303+55_303+58del
NM_001395175.1:c.300+55_300+58del NP_001382104.1:n.300+55_300+58del