Canonical Allele Identifier: CA578712652
Gene: NOS3 HGNC NCBI

Linked Data

gnomAD v2: 7-150689702-G-GC
gnomAD v3: 7-150992614-G-GC
gnomAD v4: 7-150992614-G-GC
MyVariant Identifiers: chr7:g.150689702_150689703insC (hg19) chr7:g.150992614_150992615insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150992620dup , CM000669.2:g.150992620dup GRCh38
NC_000007.13:g.150689708dup , CM000669.1:g.150689708dup GRCh37
NC_000007.12:g.150320641dup NCBI36
NG_011992.1:g.6562dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000297494.8:c.-51-1133dup MANE Select ENSP00000297494.3:n.-51-1133dup
ENST00000297494.7:c.-51-1133dup ENSP00000297494.3:n.-51-1133dup
ENST00000461406.5:c.-149+1320dup ENSP00000417143.1:n.-149+1320dup
NM_000603.4:c.-51-1133dup NP_000594.2:n.-51-1133dup
NM_000603.5:c.-51-1133dup MANE Select NP_000594.2:n.-51-1133dup
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