Canonical Allele Identifier: CA2797623630
Gene: NOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117215058_117215066del , CM000674.2:g.117215058_117215066del GRCh38
NC_000012.11:g.117652863_117652871del , CM000674.1:g.117652863_117652871del GRCh37
NC_000012.10:g.116137246_116137254del NCBI36
NG_011991.2:g.151712_151720del

Transcript Alleles

HGVS Amino-acid change
ENST00000317775.11:c.*243_*251del MANE Select ENSP00000320758.6:n.*243_*251del
ENST00000317775.10:c.*243_*251del ENSP00000320758.6:n.*243_*251del
ENST00000618760.4:c.*243_*251del ENSP00000477999.1:n.*243_*251del
NM_000620.4:c.*243_*251del NP_000611.1:n.*243_*251del
NM_001204213.1:c.*243_*251del NP_001191142.1:n.*243_*251del
NM_001204214.1:c.*243_*251del NP_001191143.1:n.*243_*251del
NM_001204218.1:c.*243_*251del NP_001191147.1:n.*243_*251del
XM_011538398.1:c.*243_*251del XP_011536700.1:n.*243_*251del
NM_000620.5:c.*243_*251del MANE Select NP_000611.1:n.*243_*251del
NM_001204213.2:c.*243_*251del NP_001191142.1:n.*243_*251del
NM_001204214.2:c.*243_*251del NP_001191143.1:n.*243_*251del
NM_001204218.2:c.*243_*251del NP_001191147.1:n.*243_*251del