Canonical Allele Identifier: CA684125521

Gene: NOS1

Linked Data

• dbSNP Id: rs1459433835
• gnomAD v3: 12-117339426-C-CA
• gnomAD v4: 12-117339426-C-CA
• MyVariant Identifiers: chr12:g.117777231_117777232insA (hg19) ; chr12:g.117339426_117339427insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117339427dup , CM000674.2:g.117339427dup	GRCh38
NC_000012.11:g.117777232dup , CM000674.1:g.117777232dup	GRCh37
NC_000012.10:g.116261615dup	NCBI36
NG_011991.2:g.27351dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.-420-7938dup MANE Select	ENSP00000320758.6:n.-420-7938dup
ENST00000317775.10:c.-420-7938dup	ENSP00000320758.6:n.-420-7938dup
ENST00000549189.1:n.471-7938dup
ENST00000618760.4:c.-420-7938dup	ENSP00000477999.1:n.-420-7938dup
NM_000620.4:c.-420-7938dup	NP_000611.1:n.-420-7938dup
NM_001204218.1:c.-420-7938dup	NP_001191147.1:n.-420-7938dup
XM_011538398.1:c.-420-7938dup	XP_011536700.1:n.-420-7938dup
NM_000620.5:c.-420-7938dup MANE Select	NP_000611.1:n.-420-7938dup
NM_001204218.2:c.-420-7938dup	NP_001191147.1:n.-420-7938dup