Canonical Allele Identifier: CA2621193432

Gene: NOS1

Linked Data

• gnomAD v4: 12-117214970-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117214974dup , CM000674.2:g.117214974dup	GRCh38
NC_000012.11:g.117652779dup , CM000674.1:g.117652779dup	GRCh37
NC_000012.10:g.116137162dup	NCBI36
NG_011991.2:g.151807dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000317775.11:c.*338dup MANE Select	ENSP00000320758.6:n.*338dup
ENST00000317775.10:c.*338dup	ENSP00000320758.6:n.*338dup
ENST00000618760.4:c.*338dup	ENSP00000477999.1:n.*338dup
NM_000620.4:c.*338dup	NP_000611.1:n.*338dup
NM_001204213.1:c.*338dup	NP_001191142.1:n.*338dup
NM_001204214.1:c.*338dup	NP_001191143.1:n.*338dup
NM_001204218.1:c.*338dup	NP_001191147.1:n.*338dup
XM_011538398.1:c.*338dup	XP_011536700.1:n.*338dup
NM_000620.5:c.*338dup MANE Select	NP_000611.1:n.*338dup
NM_001204213.2:c.*338dup	NP_001191142.1:n.*338dup
NM_001204214.2:c.*338dup	NP_001191143.1:n.*338dup
NM_001204218.2:c.*338dup	NP_001191147.1:n.*338dup