Canonical Allele Identifier: CA952296135

Gene: NOS1

Linked Data

• dbSNP Id: rs1956581686
• gnomAD v3: 12-117214958-TGCA-T
• gnomAD v4: 12-117214958-TGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117214961_117214963del , CM000674.2:g.117214961_117214963del	GRCh38
NC_000012.11:g.117652766_117652768del , CM000674.1:g.117652766_117652768del	GRCh37
NC_000012.10:g.116137149_116137151del	NCBI36
NG_011991.2:g.151817_151819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.*348_*350del MANE Select	ENSP00000320758.6:n.*348_*350del
ENST00000317775.10:c.*348_*350del	ENSP00000320758.6:n.*348_*350del
ENST00000618760.4:c.*348_*350del	ENSP00000477999.1:n.*348_*350del
NM_000620.4:c.*348_*350del	NP_000611.1:n.*348_*350del
NM_001204213.1:c.*348_*350del	NP_001191142.1:n.*348_*350del
NM_001204214.1:c.*348_*350del	NP_001191143.1:n.*348_*350del
NM_001204218.1:c.*348_*350del	NP_001191147.1:n.*348_*350del
XM_011538398.1:c.*348_*350del	XP_011536700.1:n.*348_*350del
NM_000620.5:c.*348_*350del MANE Select	NP_000611.1:n.*348_*350del
NM_001204213.2:c.*348_*350del	NP_001191142.1:n.*348_*350del
NM_001204214.2:c.*348_*350del	NP_001191143.1:n.*348_*350del
NM_001204218.2:c.*348_*350del	NP_001191147.1:n.*348_*350del