Canonical Allele Identifier: CA2603088405
Gene: NOS1 HGNC NCBI

Linked Data

dbSNP Id: rs2136050694
gnomAD v3: 12-117307316-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117307317del , CM000674.2:g.117307317del GRCh38
NC_000012.11:g.117745122del , CM000674.1:g.117745122del GRCh37
NC_000012.10:g.116229505del NCBI36
NG_011991.2:g.59461del

Transcript Alleles

HGVS Amino-acid change
ENST00000317775.11:c.852+4149del MANE Select ENSP00000320758.6:n.852+4149del
ENST00000317775.10:c.852+4149del ENSP00000320758.6:n.852+4149del
ENST00000338101.8:c.852+4149del ENSP00000337459.4:n.852+4149del
ENST00000344089.4:c.849+4149del ENSP00000339862.4:n.849+4149del
ENST00000618760.4:c.852+4149del ENSP00000477999.1:n.852+4149del
NM_000620.4:c.852+4149del NP_000611.1:n.852+4149del
NM_001204214.1:c.-213+2000del NP_001191143.1:n.-213+2000del
NM_001204218.1:c.852+4149del NP_001191147.1:n.852+4149del
XM_011538398.1:c.852+4149del XP_011536700.1:n.852+4149del
NM_000620.5:c.852+4149del MANE Select NP_000611.1:n.852+4149del
NM_001204214.2:c.-213+2000del NP_001191143.1:n.-213+2000del
NM_001204218.2:c.852+4149del NP_001191147.1:n.852+4149del
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