Canonical Allele Identifier: CA2065999918
Gene: NOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117307349_117307350delinsAG , CM000674.2:g.117307349_117307350delinsAG GRCh38
NC_000012.11:g.117745154_117745155delinsAG , CM000674.1:g.117745154_117745155delinsAG GRCh37
NC_000012.10:g.116229537_116229538delinsAG NCBI36
NG_011991.2:g.59428_59429delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000317775.11:c.852+4116_852+4117delinsCT MANE Select ENSP00000320758.6:n.852+4116_852+4117deli...
ENST00000317775.10:c.852+4116_852+4117delinsCT ENSP00000320758.6:n.852+4116_852+4117deli...
ENST00000338101.8:c.852+4116_852+4117delinsCT ENSP00000337459.4:n.852+4116_852+4117deli...
ENST00000344089.4:c.849+4116_849+4117delinsCT ENSP00000339862.4:n.849+4116_849+4117deli...
ENST00000618760.4:c.852+4116_852+4117delinsCT ENSP00000477999.1:n.852+4116_852+4117deli...
NM_000620.4:c.852+4116_852+4117delinsCT NP_000611.1:n.852+4116_852+4117delinsCT
NM_001204214.1:c.-213+1967_-213+1968delinsCT NP_001191143.1:n.-213+1967_-213+1968delin...
NM_001204218.1:c.852+4116_852+4117delinsCT NP_001191147.1:n.852+4116_852+4117delinsC...
XM_011538398.1:c.852+4116_852+4117delinsCT XP_011536700.1:n.852+4116_852+4117delinsC...
NM_000620.5:c.852+4116_852+4117delinsCT MANE Select NP_000611.1:n.852+4116_852+4117delinsCT
NM_001204214.2:c.-213+1967_-213+1968delinsCT NP_001191143.1:n.-213+1967_-213+1968delin...
NM_001204218.2:c.852+4116_852+4117delinsCT NP_001191147.1:n.852+4116_852+4117delinsC...