Canonical Allele Identifier: CA2066054894

Gene: NOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117358147_117358148delinsGC , CM000674.2:g.117358147_117358148delinsGC	GRCh38
NC_000012.11:g.117795952_117795953delinsGC , CM000674.1:g.117795952_117795953delinsGC	GRCh37
NC_000012.10:g.116280335_116280336delinsGC	NCBI36
NG_011991.2:g.8630_8631delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.-421+3364_-421+3365delinsGC MANE Select	ENSP00000320758.6:n.-421+3364_-421+3365delinsGC
ENST00000317775.10:c.-421+3364_-421+3365delinsGC	ENSP00000320758.6:n.-421+3364_-421+3365delinsGC
ENST00000477584.1:n.118+3364_118+3365delinsGC
ENST00000549189.1:n.471-26659_471-26658delinsGC
ENST00000618760.4:c.-421+3364_-421+3365delinsGC	ENSP00000477999.1:n.-421+3364_-421+3365delinsGC
NM_000620.4:c.-421+3364_-421+3365delinsGC	NP_000611.1:n.-421+3364_-421+3365delinsGC
NM_001204218.1:c.-421+3364_-421+3365delinsGC	NP_001191147.1:n.-421+3364_-421+3365delinsGC
XM_011538398.1:c.-421+843_-421+844delinsGC	XP_011536700.1:n.-421+843_-421+844delinsGC
NM_000620.5:c.-421+3364_-421+3365delinsGC MANE Select	NP_000611.1:n.-421+3364_-421+3365delinsGC
NM_001204218.2:c.-421+3364_-421+3365delinsGC	NP_001191147.1:n.-421+3364_-421+3365delinsGC