Canonical Allele Identifier: CA244270154

Gene: NOS1

Linked Data

• dbSNP Id: rs33951458
• MyVariant Identifiers: chr12:g.117745048_117745049insT (hg19) ; chr12:g.117307243_117307244insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117307243_117307244insT , CM000674.2:g.117307243_117307244insT	GRCh38
NC_000012.11:g.117745048_117745049insT , CM000674.1:g.117745048_117745049insT	GRCh37
NC_000012.10:g.116229431_116229432insT	NCBI36
NG_011991.2:g.59534_59535insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.852+4222_852+4223insA MANE Select	ENSP00000320758.6:n.852+4222_852+4223insA
ENST00000317775.10:c.852+4222_852+4223insA	ENSP00000320758.6:n.852+4222_852+4223insA
ENST00000338101.8:c.852+4222_852+4223insA	ENSP00000337459.4:n.852+4222_852+4223insA
ENST00000344089.4:c.849+4222_849+4223insA	ENSP00000339862.4:n.849+4222_849+4223insA
ENST00000618760.4:c.852+4222_852+4223insA	ENSP00000477999.1:n.852+4222_852+4223insA
NM_000620.4:c.852+4222_852+4223insA	NP_000611.1:n.852+4222_852+4223insA
NM_001204214.1:c.-213+2073_-213+2074insA	NP_001191143.1:n.-213+2073_-213+2074insA
NM_001204218.1:c.852+4222_852+4223insA	NP_001191147.1:n.852+4222_852+4223insA
XM_011538398.1:c.852+4222_852+4223insA	XP_011536700.1:n.852+4222_852+4223insA
NM_000620.5:c.852+4222_852+4223insA MANE Select	NP_000611.1:n.852+4222_852+4223insA
NM_001204214.2:c.-213+2073_-213+2074insA	NP_001191143.1:n.-213+2073_-213+2074insA
NM_001204218.2:c.852+4222_852+4223insA	NP_001191147.1:n.852+4222_852+4223insA