Canonical Allele Identifier: CA952292689

Gene: NOS1

Linked Data

• dbSNP Id: rs1875986985
• gnomAD v3: 12-117339328-A-ATGATATGATGCCCATATCTC
• gnomAD v4: 12-117339328-A-ATGATATGATGCCCATATCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117339328_117339329insTGATATGATGCCCATATCTC , CM000674.2:g.117339328_117339329insTGATATGATGCCCATATCTC	GRCh38
NC_000012.11:g.117777133_117777134insTGATATGATGCCCATATCTC , CM000674.1:g.117777133_117777134insTGATATGATGCCCATATCTC	GRCh37
NC_000012.10:g.116261516_116261517insTGATATGATGCCCATATCTC	NCBI36
NG_011991.2:g.27449_27450insGAGATATGGGCATCATATCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.-420-7840_-420-7839insGAGATATGGGCATCATATCA MANE Select	ENSP00000320758.6:n.-420-7840_-420-7839insGAGATATGGGCATCATATC...
ENST00000317775.10:c.-420-7840_-420-7839insGAGATATGGGCATCATATCA	ENSP00000320758.6:n.-420-7840_-420-7839insGAGATATGGGCATCATATC...
ENST00000549189.1:n.471-7840_471-7839insGAGATATGGGCATCATATCA
ENST00000618760.4:c.-420-7840_-420-7839insGAGATATGGGCATCATATCA	ENSP00000477999.1:n.-420-7840_-420-7839insGAGATATGGGCATCATATC...
NM_000620.4:c.-420-7840_-420-7839insGAGATATGGGCATCATATCA	NP_000611.1:n.-420-7840_-420-7839insGAGATATGGGCATCATATCA
NM_001204218.1:c.-420-7840_-420-7839insGAGATATGGGCATCATATCA	NP_001191147.1:n.-420-7840_-420-7839insGAGATATGGGCATCATATCA
XM_011538398.1:c.-420-7840_-420-7839insGAGATATGGGCATCATATCA	XP_011536700.1:n.-420-7840_-420-7839insGAGATATGGGCATCATATCA
NM_000620.5:c.-420-7840_-420-7839insGAGATATGGGCATCATATCA MANE Select	NP_000611.1:n.-420-7840_-420-7839insGAGATATGGGCATCATATCA
NM_001204218.2:c.-420-7840_-420-7839insGAGATATGGGCATCATATCA	NP_001191147.1:n.-420-7840_-420-7839insGAGATATGGGCATCATATCA