Canonical Allele Identifier: CA2065999730

Gene: NOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117307141_117307146delinsCTTTCT , CM000674.2:g.117307141_117307146delinsCTTTCT	GRCh38
NC_000012.11:g.117744946_117744951delinsCTTTCT , CM000674.1:g.117744946_117744951delinsCTTTCT	GRCh37
NC_000012.10:g.116229329_116229334delinsCTTTCT	NCBI36
NG_011991.2:g.59632_59637delinsAGAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.852+4320_852+4325delinsAGAAAG MANE Select	ENSP00000320758.6:n.852+4320_852+4325delinsAGAAAG
ENST00000317775.10:c.852+4320_852+4325delinsAGAAAG	ENSP00000320758.6:n.852+4320_852+4325delinsAGAAAG
ENST00000338101.8:c.852+4320_852+4325delinsAGAAAG	ENSP00000337459.4:n.852+4320_852+4325delinsAGAAAG
ENST00000344089.4:c.849+4320_849+4325delinsAGAAAG	ENSP00000339862.4:n.849+4320_849+4325delinsAGAAAG
ENST00000618760.4:c.852+4320_852+4325delinsAGAAAG	ENSP00000477999.1:n.852+4320_852+4325delinsAGAAAG
NM_000620.4:c.852+4320_852+4325delinsAGAAAG	NP_000611.1:n.852+4320_852+4325delinsAGAAAG
NM_001204214.1:c.-213+2171_-213+2176delinsAGAAAG	NP_001191143.1:n.-213+2171_-213+2176delinsAGAAAG
NM_001204218.1:c.852+4320_852+4325delinsAGAAAG	NP_001191147.1:n.852+4320_852+4325delinsAGAAAG
XM_011538398.1:c.852+4320_852+4325delinsAGAAAG	XP_011536700.1:n.852+4320_852+4325delinsAGAAAG
NM_000620.5:c.852+4320_852+4325delinsAGAAAG MANE Select	NP_000611.1:n.852+4320_852+4325delinsAGAAAG
NM_001204214.2:c.-213+2171_-213+2176delinsAGAAAG	NP_001191143.1:n.-213+2171_-213+2176delinsAGAAAG
NM_001204218.2:c.852+4320_852+4325delinsAGAAAG	NP_001191147.1:n.852+4320_852+4325delinsAGAAAG