Canonical Allele Identifier: CA169098227
Gene: NOS3 HGNC NCBI

Linked Data

dbSNP Id: rs1053800832
gnomAD v2: 7-150689773-CTT-C
gnomAD v3: 7-150992685-CTT-C
gnomAD v4: 7-150992685-CTT-C
MyVariant Identifiers: chr7:g.150689774_150689775del (hg19) chr7:g.150689774_150689777delinsGT (hg19) chr7:g.150992686_150992687del (hg38) chr7:g.150992686_150992689delinsGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150992686_150992687del , CM000669.2:g.150992686_150992687del GRCh38
NC_000007.13:g.150689774_150689775del , CM000669.1:g.150689774_150689775del GRCh37
NC_000007.12:g.150320707_150320708del NCBI36
NG_011992.1:g.6628_6629del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297494.8:c.-51-1067_-51-1066del MANE Select ENSP00000297494.3:n.-51-1067_-51-1066del
ENST00000297494.7:c.-51-1067_-51-1066del ENSP00000297494.3:n.-51-1067_-51-1066del
ENST00000461406.5:c.-149+1386_-149+1387del ENSP00000417143.1:n.-149+1386_-149+1387del
NM_000603.4:c.-51-1067_-51-1066del NP_000594.2:n.-51-1067_-51-1066del
NM_000603.5:c.-51-1067_-51-1066del MANE Select NP_000594.2:n.-51-1067_-51-1066del
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