Canonical Allele Identifier: CA2797627588
Gene: NOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117358154del , CM000674.2:g.117358154del GRCh38
NC_000012.11:g.117795959del , CM000674.1:g.117795959del GRCh37
NC_000012.10:g.116280342del NCBI36
NG_011991.2:g.8625del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317775.11:c.-421+3359del MANE Select ENSP00000320758.6:n.-421+3359del
ENST00000317775.10:c.-421+3359del ENSP00000320758.6:n.-421+3359del
ENST00000477584.1:n.118+3359del
ENST00000549189.1:n.471-26664del
ENST00000618760.4:c.-421+3359del ENSP00000477999.1:n.-421+3359del
NM_000620.4:c.-421+3359del NP_000611.1:n.-421+3359del
NM_001204218.1:c.-421+3359del NP_001191147.1:n.-421+3359del
XM_011538398.1:c.-421+838del XP_011536700.1:n.-421+838del
NM_000620.5:c.-421+3359del MANE Select NP_000611.1:n.-421+3359del
NM_001204218.2:c.-421+3359del NP_001191147.1:n.-421+3359del