Canonical Allele Identifier: CA169098229
Gene: NOS3 HGNC NCBI

Linked Data

dbSNP Id: rs376355136
gnomAD v2: 7-150689773-CTTGT-C
gnomAD v3: 7-150992685-CTTGT-C
gnomAD v4: 7-150992685-CTTGT-C
MyVariant Identifiers: chr7:g.150689774_150689777del (hg19) chr7:g.150992686_150992689del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150992694_150992697del , CM000669.2:g.150992694_150992697del GRCh38
NC_000007.13:g.150689782_150689785del , CM000669.1:g.150689782_150689785del GRCh37
NC_000007.12:g.150320715_150320718del NCBI36
NG_011992.1:g.6636_6639del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297494.8:c.-51-1059_-51-1056del MANE Select ENSP00000297494.3:n.-51-1059_-51-1056del
ENST00000297494.7:c.-51-1059_-51-1056del ENSP00000297494.3:n.-51-1059_-51-1056del
ENST00000461406.5:c.-149+1394_-149+1397del ENSP00000417143.1:n.-149+1394_-149+1397del
NM_000603.4:c.-51-1059_-51-1056del NP_000594.2:n.-51-1059_-51-1056del
NM_000603.5:c.-51-1059_-51-1056del MANE Select NP_000594.2:n.-51-1059_-51-1056del
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