Canonical Allele Identifier: CA2189589132
Gene: CHRNA5 HGNC NCBI

Linked Data

dbSNP Id: rs2052965797

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78586886_78586889del , CM000677.2:g.78586886_78586889del GRCh38
NC_000015.9:g.78879228_78879231del , CM000677.1:g.78879228_78879231del GRCh37
NC_000015.8:g.76666283_76666286del NCBI36
NG_023328.1:g.26367_26370del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.303+197_303+200del MANE Select ENSP00000299565.5:n.303+197_303+200del
ENST00000394802.4:c.118+197_118+200del
ENST00000559554.5:c.303+197_303+200del ENSP00000453519.1:n.303+197_303+200del
NM_000745.3:c.303+197_303+200del NP_000736.2:n.303+197_303+200del
NM_001307945.1:c.303+197_303+200del NP_001294874.1:n.303+197_303+200del
XM_005254142.2:c.303+197_303+200del XP_005254199.1:n.303+197_303+200del
NM_001307945.2:c.303+197_303+200del NP_001294874.1:n.303+197_303+200del
NM_000745.4:c.303+197_303+200del MANE Select NP_000736.2:n.303+197_303+200del
NM_001395171.1:c.303+197_303+200del NP_001382100.1:n.303+197_303+200del
NM_001395172.1:c.303+197_303+200del NP_001382101.1:n.303+197_303+200del
NM_001395173.1:c.303+197_303+200del NP_001382102.1:n.303+197_303+200del
NM_001395174.1:c.303+197_303+200del NP_001382103.1:n.303+197_303+200del
NM_001395175.1:c.300+197_300+200del NP_001382104.1:n.300+197_300+200del