Canonical Allele Identifier: CA684125436
Gene: NOS1 HGNC NCBI

Linked Data

dbSNP Id: rs1320657590
MyVariant Identifiers: chr12:g.117777153_117777154insC (hg19) chr12:g.117339348_117339349insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117339349dup , CM000674.2:g.117339349dup GRCh38
NC_000012.11:g.117777154dup , CM000674.1:g.117777154dup GRCh37
NC_000012.10:g.116261537dup NCBI36
NG_011991.2:g.27429dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000317775.11:c.-420-7860dup MANE Select ENSP00000320758.6:n.-420-7860dup
ENST00000317775.10:c.-420-7860dup ENSP00000320758.6:n.-420-7860dup
ENST00000549189.1:n.471-7860dup
ENST00000618760.4:c.-420-7860dup ENSP00000477999.1:n.-420-7860dup
NM_000620.4:c.-420-7860dup NP_000611.1:n.-420-7860dup
NM_001204218.1:c.-420-7860dup NP_001191147.1:n.-420-7860dup
XM_011538398.1:c.-420-7860dup XP_011536700.1:n.-420-7860dup
NM_000620.5:c.-420-7860dup MANE Select NP_000611.1:n.-420-7860dup
NM_001204218.2:c.-420-7860dup NP_001191147.1:n.-420-7860dup
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