Canonical Allele Identifier: CA952277218
Gene: NOS1 HGNC NCBI

Linked Data

dbSNP Id: rs1876931527
gnomAD v3: 12-117357994-GC-G
gnomAD v4: 12-117357994-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117357998del , CM000674.2:g.117357998del GRCh38
NC_000012.11:g.117795803del , CM000674.1:g.117795803del GRCh37
NC_000012.10:g.116280186del NCBI36
NG_011991.2:g.8783del

Transcript Alleles

HGVS Amino-acid change
ENST00000317775.11:c.-421+3517del MANE Select ENSP00000320758.6:n.-421+3517del
ENST00000317775.10:c.-421+3517del ENSP00000320758.6:n.-421+3517del
ENST00000477584.1:n.118+3517del
ENST00000549189.1:n.471-26506del
ENST00000618760.4:c.-421+3517del ENSP00000477999.1:n.-421+3517del
NM_000620.4:c.-421+3517del NP_000611.1:n.-421+3517del
NM_001204218.1:c.-421+3517del NP_001191147.1:n.-421+3517del
XM_011538398.1:c.-421+996del XP_011536700.1:n.-421+996del
NM_000620.5:c.-421+3517del MANE Select NP_000611.1:n.-421+3517del
NM_001204218.2:c.-421+3517del NP_001191147.1:n.-421+3517del
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