Canonical Allele Identifier: CA919184686

Gene: NOS1

Linked Data

• dbSNP Id: rs1566084232
• gnomAD v3: 12-117342152-CTCA-C
• gnomAD v4: 12-117342152-CTCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117342155_117342157del , CM000674.2:g.117342155_117342157del	GRCh38
NC_000012.11:g.117779960_117779962del , CM000674.1:g.117779960_117779962del	GRCh37
NC_000012.10:g.116264343_116264345del	NCBI36
NG_011991.2:g.24623_24625del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.-420-10666_-420-10664del MANE Select	ENSP00000320758.6:n.-420-10666_-420-10664del
ENST00000317775.10:c.-420-10666_-420-10664del	ENSP00000320758.6:n.-420-10666_-420-10664del
ENST00000549189.1:n.471-10666_471-10664del
ENST00000618760.4:c.-420-10666_-420-10664del	ENSP00000477999.1:n.-420-10666_-420-10664del
NM_000620.4:c.-420-10666_-420-10664del	NP_000611.1:n.-420-10666_-420-10664del
NM_001204218.1:c.-420-10666_-420-10664del	NP_001191147.1:n.-420-10666_-420-10664del
XM_011538398.1:c.-420-10666_-420-10664del	XP_011536700.1:n.-420-10666_-420-10664del
NM_000620.5:c.-420-10666_-420-10664del MANE Select	NP_000611.1:n.-420-10666_-420-10664del
NM_001204218.2:c.-420-10666_-420-10664del	NP_001191147.1:n.-420-10666_-420-10664del