Canonical Allele Identifier: CA2065974437

Gene: NOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117214958_117214961delinsTGCA , CM000674.2:g.117214958_117214961delinsTGCA	GRCh38
NC_000012.11:g.117652763_117652766delinsTGCA , CM000674.1:g.117652763_117652766delinsTGCA	GRCh37
NC_000012.10:g.116137146_116137149delinsTGCA	NCBI36
NG_011991.2:g.151817_151820delinsTGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000317775.11:c.*348_*351delinsTGCA MANE Select	ENSP00000320758.6:n.*348_*351delinsTGCA
ENST00000317775.10:c.*348_*351delinsTGCA	ENSP00000320758.6:n.*348_*351delinsTGCA
ENST00000618760.4:c.*348_*351delinsTGCA	ENSP00000477999.1:n.*348_*351delinsTGCA
NM_000620.4:c.*348_*351delinsTGCA	NP_000611.1:n.*348_*351delinsTGCA
NM_001204213.1:c.*348_*351delinsTGCA	NP_001191142.1:n.*348_*351delinsTGCA
NM_001204214.1:c.*348_*351delinsTGCA	NP_001191143.1:n.*348_*351delinsTGCA
NM_001204218.1:c.*348_*351delinsTGCA	NP_001191147.1:n.*348_*351delinsTGCA
XM_011538398.1:c.*348_*351delinsTGCA	XP_011536700.1:n.*348_*351delinsTGCA
NM_000620.5:c.*348_*351delinsTGCA MANE Select	NP_000611.1:n.*348_*351delinsTGCA
NM_001204213.2:c.*348_*351delinsTGCA	NP_001191142.1:n.*348_*351delinsTGCA
NM_001204214.2:c.*348_*351delinsTGCA	NP_001191143.1:n.*348_*351delinsTGCA
NM_001204218.2:c.*348_*351delinsTGCA	NP_001191147.1:n.*348_*351delinsTGCA