Canonical Allele Identifier: CA2066036842
Gene: NOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117342554_117342562delinsGGGGTGACA , CM000674.2:g.117342554_117342562delinsGGGGTGACA GRCh38
NC_000012.11:g.117780359_117780367delinsGGGGTGACA , CM000674.1:g.117780359_117780367delinsGGGGTGACA GRCh37
NC_000012.10:g.116264742_116264750delinsGGGGTGACA NCBI36
NG_011991.2:g.24216_24224delinsTGTCACCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000317775.11:c.-420-11073_-420-11065delinsTGTCACCCC MANE Select ENSP00000320758.6:n.-420-11073_-420-11065delinsTGTCACCCC
ENST00000317775.10:c.-420-11073_-420-11065delinsTGTCACCCC ENSP00000320758.6:n.-420-11073_-420-11065delinsTGTCACCCC
ENST00000549189.1:n.471-11073_471-11065delinsTGTCACCCC
ENST00000618760.4:c.-420-11073_-420-11065delinsTGTCACCCC ENSP00000477999.1:n.-420-11073_-420-11065delinsTGTCACCCC
NM_000620.4:c.-420-11073_-420-11065delinsTGTCACCCC NP_000611.1:n.-420-11073_-420-11065delinsTGTCACCCC
NM_001204218.1:c.-420-11073_-420-11065delinsTGTCACCCC NP_001191147.1:n.-420-11073_-420-11065delinsTGTCACCCC
XM_011538398.1:c.-420-11073_-420-11065delinsTGTCACCCC XP_011536700.1:n.-420-11073_-420-11065delinsTGTCACCCC
NM_000620.5:c.-420-11073_-420-11065delinsTGTCACCCC MANE Select NP_000611.1:n.-420-11073_-420-11065delinsTGTCACCCC
NM_001204218.2:c.-420-11073_-420-11065delinsTGTCACCCC NP_001191147.1:n.-420-11073_-420-11065delinsTGTCACCCC