Canonical Allele Identifier: CA607676971

Gene: NOS1

Linked Data

• dbSNP Id: rs1182594584
• gnomAD v2: 12-117744951-T-TAA
• gnomAD v3: 12-117307146-T-TAA
• gnomAD v4: 12-117307146-T-TAA
• MyVariant Identifiers: chr12:g.117744951_117744952insAA (hg19) ; chr12:g.117307146_117307147insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117307146_117307147insAA , CM000674.2:g.117307146_117307147insAA	GRCh38
NC_000012.11:g.117744951_117744952insAA , CM000674.1:g.117744951_117744952insAA	GRCh37
NC_000012.10:g.116229334_116229335insAA	NCBI36
NG_011991.2:g.59631_59632insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.852+4319_852+4320insTT MANE Select	ENSP00000320758.6:n.852+4319_852+4320insTT
ENST00000317775.10:c.852+4319_852+4320insTT	ENSP00000320758.6:n.852+4319_852+4320insTT
ENST00000338101.8:c.852+4319_852+4320insTT	ENSP00000337459.4:n.852+4319_852+4320insTT
ENST00000344089.4:c.849+4319_849+4320insTT	ENSP00000339862.4:n.849+4319_849+4320insTT
ENST00000618760.4:c.852+4319_852+4320insTT	ENSP00000477999.1:n.852+4319_852+4320insTT
NM_000620.4:c.852+4319_852+4320insTT	NP_000611.1:n.852+4319_852+4320insTT
NM_001204214.1:c.-213+2170_-213+2171insTT	NP_001191143.1:n.-213+2170_-213+2171insTT
NM_001204218.1:c.852+4319_852+4320insTT	NP_001191147.1:n.852+4319_852+4320insTT
XM_011538398.1:c.852+4319_852+4320insTT	XP_011536700.1:n.852+4319_852+4320insTT
NM_000620.5:c.852+4319_852+4320insTT MANE Select	NP_000611.1:n.852+4319_852+4320insTT
NM_001204214.2:c.-213+2170_-213+2171insTT	NP_001191143.1:n.-213+2170_-213+2171insTT
NM_001204218.2:c.852+4319_852+4320insTT	NP_001191147.1:n.852+4319_852+4320insTT