Canonical Allele Identifier: CA952294231

Gene: NOS1

Linked Data

• dbSNP Id: rs1876140592
• gnomAD v3: 12-117342120-TC-T
• gnomAD v4: 12-117342120-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117342122del , CM000674.2:g.117342122del	GRCh38
NC_000012.11:g.117779927del , CM000674.1:g.117779927del	GRCh37
NC_000012.10:g.116264310del	NCBI36
NG_011991.2:g.24657del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.-420-10632del MANE Select	ENSP00000320758.6:n.-420-10632del
ENST00000317775.10:c.-420-10632del	ENSP00000320758.6:n.-420-10632del
ENST00000549189.1:n.471-10632del
ENST00000618760.4:c.-420-10632del	ENSP00000477999.1:n.-420-10632del
NM_000620.4:c.-420-10632del	NP_000611.1:n.-420-10632del
NM_001204218.1:c.-420-10632del	NP_001191147.1:n.-420-10632del
XM_011538398.1:c.-420-10632del	XP_011536700.1:n.-420-10632del
NM_000620.5:c.-420-10632del MANE Select	NP_000611.1:n.-420-10632del
NM_001204218.2:c.-420-10632del	NP_001191147.1:n.-420-10632del