Canonical Allele Identifier: CA244275503

Gene: NOS1

Linked Data

• dbSNP Id: rs986478641
• gnomAD v3: 12-117313678-AGG-A
• gnomAD v4: 12-117313678-AGG-A
• MyVariant Identifiers: chr12:g.117751484_117751485del (hg19) ; chr12:g.117313679_117313680del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117313679_117313680del , CM000674.2:g.117313679_117313680del	GRCh38
NC_000012.11:g.117751484_117751485del , CM000674.1:g.117751484_117751485del	GRCh37
NC_000012.10:g.116235867_116235868del	NCBI36
NG_011991.2:g.53098_53099del

Transcript Alleles

HGVS	Amino-acid change
ENST00000317775.11:c.726-2088_726-2087del MANE Select	ENSP00000320758.6:n.726-2088_726-2087del
ENST00000317775.10:c.726-2088_726-2087del	ENSP00000320758.6:n.726-2088_726-2087del
ENST00000338101.8:c.726-2088_726-2087del	ENSP00000337459.4:n.726-2088_726-2087del
ENST00000344089.4:c.723-2088_723-2087del	ENSP00000339862.4:n.723-2088_723-2087del
ENST00000618760.4:c.726-2088_726-2087del	ENSP00000477999.1:n.726-2088_726-2087del
NM_000620.4:c.726-2088_726-2087del	NP_000611.1:n.726-2088_726-2087del
NM_001204218.1:c.726-2088_726-2087del	NP_001191147.1:n.726-2088_726-2087del
XM_011538398.1:c.726-2088_726-2087del	XP_011536700.1:n.726-2088_726-2087del
NM_000620.5:c.726-2088_726-2087del MANE Select	NP_000611.1:n.726-2088_726-2087del
NM_001204218.2:c.726-2088_726-2087del	NP_001191147.1:n.726-2088_726-2087del