Canonical Allele Identifier: CA2065999837

Gene: NOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117307243_117307252delinsGGGTAAGCTA , CM000674.2:g.117307243_117307252delinsGGGTAAGCTA	GRCh38
NC_000012.11:g.117745048_117745057delinsGGGTAAGCTA , CM000674.1:g.117745048_117745057delinsGGGTAAGCTA	GRCh37
NC_000012.10:g.116229431_116229440delinsGGGTAAGCTA	NCBI36
NG_011991.2:g.59526_59535delinsTAGCTTACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.852+4214_852+4223delinsTAGCTTACCC MANE Select	ENSP00000320758.6:n.852+4214_852+4223delinsTAGCTTACCC
ENST00000317775.10:c.852+4214_852+4223delinsTAGCTTACCC	ENSP00000320758.6:n.852+4214_852+4223delinsTAGCTTACCC
ENST00000338101.8:c.852+4214_852+4223delinsTAGCTTACCC	ENSP00000337459.4:n.852+4214_852+4223delinsTAGCTTACCC
ENST00000344089.4:c.849+4214_849+4223delinsTAGCTTACCC	ENSP00000339862.4:n.849+4214_849+4223delinsTAGCTTACCC
ENST00000618760.4:c.852+4214_852+4223delinsTAGCTTACCC	ENSP00000477999.1:n.852+4214_852+4223delinsTAGCTTACCC
NM_000620.4:c.852+4214_852+4223delinsTAGCTTACCC	NP_000611.1:n.852+4214_852+4223delinsTAGCTTACCC
NM_001204214.1:c.-213+2065_-213+2074delinsTAGCTTACCC	NP_001191143.1:n.-213+2065_-213+2074delinsTAGCTTACCC
NM_001204218.1:c.852+4214_852+4223delinsTAGCTTACCC	NP_001191147.1:n.852+4214_852+4223delinsTAGCTTACCC
XM_011538398.1:c.852+4214_852+4223delinsTAGCTTACCC	XP_011536700.1:n.852+4214_852+4223delinsTAGCTTACCC
NM_000620.5:c.852+4214_852+4223delinsTAGCTTACCC MANE Select	NP_000611.1:n.852+4214_852+4223delinsTAGCTTACCC
NM_001204214.2:c.-213+2065_-213+2074delinsTAGCTTACCC	NP_001191143.1:n.-213+2065_-213+2074delinsTAGCTTACCC
NM_001204218.2:c.852+4214_852+4223delinsTAGCTTACCC	NP_001191147.1:n.852+4214_852+4223delinsTAGCTTACCC