Canonical Allele Identifier: CA952292678
Gene: NOS1 HGNC NCBI

Linked Data

dbSNP Id: rs1875986008
gnomAD v3: 12-117339322-G-GGTA
gnomAD v4: 12-117339322-G-GGTA
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117339326_117339328dup , CM000674.2:g.117339326_117339328dup GRCh38
NC_000012.11:g.117777131_117777133dup , CM000674.1:g.117777131_117777133dup GRCh37
NC_000012.10:g.116261514_116261516dup NCBI36
NG_011991.2:g.27453_27455dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000317775.11:c.-420-7836_-420-7834dup MANE Select ENSP00000320758.6:n.-420-7836_-420-7834dup
ENST00000317775.10:c.-420-7836_-420-7834dup ENSP00000320758.6:n.-420-7836_-420-7834dup
ENST00000549189.1:n.471-7836_471-7834dup
ENST00000618760.4:c.-420-7836_-420-7834dup ENSP00000477999.1:n.-420-7836_-420-7834dup
NM_000620.4:c.-420-7836_-420-7834dup NP_000611.1:n.-420-7836_-420-7834dup
NM_001204218.1:c.-420-7836_-420-7834dup NP_001191147.1:n.-420-7836_-420-7834dup
XM_011538398.1:c.-420-7836_-420-7834dup XP_011536700.1:n.-420-7836_-420-7834dup
NM_000620.5:c.-420-7836_-420-7834dup MANE Select NP_000611.1:n.-420-7836_-420-7834dup
NM_001204218.2:c.-420-7836_-420-7834dup NP_001191147.1:n.-420-7836_-420-7834dup
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