Canonical Allele Identifier: CA952292688
Gene: NOS1 HGNC NCBI

Linked Data

dbSNP Id: rs1875986858
gnomAD v3: 12-117339326-G-GA
gnomAD v4: 12-117339326-G-GA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117339326_117339327insA , CM000674.2:g.117339326_117339327insA GRCh38
NC_000012.11:g.117777131_117777132insA , CM000674.1:g.117777131_117777132insA GRCh37
NC_000012.10:g.116261514_116261515insA NCBI36
NG_011991.2:g.27451_27452insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000317775.11:c.-420-7838_-420-7837insT MANE Select ENSP00000320758.6:n.-420-7838_-420-7837insT
ENST00000317775.10:c.-420-7838_-420-7837insT ENSP00000320758.6:n.-420-7838_-420-7837insT
ENST00000549189.1:n.471-7838_471-7837insT
ENST00000618760.4:c.-420-7838_-420-7837insT ENSP00000477999.1:n.-420-7838_-420-7837insT
NM_000620.4:c.-420-7838_-420-7837insT NP_000611.1:n.-420-7838_-420-7837insT
NM_001204218.1:c.-420-7838_-420-7837insT NP_001191147.1:n.-420-7838_-420-7837insT
XM_011538398.1:c.-420-7838_-420-7837insT XP_011536700.1:n.-420-7838_-420-7837insT
NM_000620.5:c.-420-7838_-420-7837insT MANE Select NP_000611.1:n.-420-7838_-420-7837insT
NM_001204218.2:c.-420-7838_-420-7837insT NP_001191147.1:n.-420-7838_-420-7837insT
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