Canonical Allele Identifier: CA169098224
Gene: NOS3 HGNC NCBI

Linked Data

dbSNP Id: rs376355136
gnomAD v3: 7-150992685-C-CTTGT
gnomAD v4: 7-150992685-C-CTTGT
MyVariant Identifiers: chr7:g.150689773_150689774insTTGT (hg19) chr7:g.150992685_150992686insTTGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150992694_150992697dup , CM000669.2:g.150992694_150992697dup GRCh38
NC_000007.13:g.150689782_150689785dup , CM000669.1:g.150689782_150689785dup GRCh37
NC_000007.12:g.150320715_150320718dup NCBI36
NG_011992.1:g.6636_6639dup

Transcript Alleles

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