Canonical Allele Identifier: CA607668956

Gene: NOS1

Linked Data

• dbSNP Id: rs1446508431
• gnomAD v2: 12-117777524-T-TA
• MyVariant Identifiers: chr12:g.117777524_117777525insA (hg19) ; chr12:g.117339719_117339720insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117339724dup , CM000674.2:g.117339724dup	GRCh38
NC_000012.11:g.117777529dup , CM000674.1:g.117777529dup	GRCh37
NC_000012.10:g.116261912dup	NCBI36
NG_011991.2:g.27058dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.-420-8231dup MANE Select	ENSP00000320758.6:n.-420-8231dup
ENST00000317775.10:c.-420-8231dup	ENSP00000320758.6:n.-420-8231dup
ENST00000549189.1:n.471-8231dup
ENST00000618760.4:c.-420-8231dup	ENSP00000477999.1:n.-420-8231dup
NM_000620.4:c.-420-8231dup	NP_000611.1:n.-420-8231dup
NM_001204218.1:c.-420-8231dup	NP_001191147.1:n.-420-8231dup
XM_011538398.1:c.-420-8231dup	XP_011536700.1:n.-420-8231dup
NM_000620.5:c.-420-8231dup MANE Select	NP_000611.1:n.-420-8231dup
NM_001204218.2:c.-420-8231dup	NP_001191147.1:n.-420-8231dup