Canonical Allele Identifier: CA4567545
Gene: NOS3 HGNC NCBI

Linked Data

dbSNP Id: rs780589706
ExAC: 7:150708086 GGAA / G
gnomAD v2: 7-150708086-GGAA-G
gnomAD v3: 7-151010998-GGAA-G
gnomAD v4: 7-151010998-GGAA-G
MyVariant Identifiers: chr7:g.150708087_150708089del (hg19) chr7:g.151011000_151011002del (hg38) chr7:g.151010999_151011001del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151011001_151011003del , CM000669.2:g.151011001_151011003del GRCh38
NC_000007.13:g.150708089_150708091del , CM000669.1:g.150708089_150708091del GRCh37
NC_000007.12:g.150339022_150339024del NCBI36
NG_011992.1:g.24943_24945del
NG_030317.1:g.18499_18501del

Transcript Alleles

HGVS Amino-acid change
ENST00000297494.8:c.2984+15_2984+17del MANE Select ENSP00000297494.3:n.2984+15_2984+17del
ENST00000297494.7:c.2984+15_2984+17del ENSP00000297494.3:n.2984+15_2984+17del
ENST00000461406.5:c.2366+15_2366+17del ENSP00000417143.1:n.2366+15_2366+17del
ENST00000468293.5:n.467+15_467+17del
ENST00000475017.1:c.865+15_865+17del
ENST00000477227.1:n.363+15_363+17del
NM_000603.4:c.2984+15_2984+17del NP_000594.2:n.2984+15_2984+17del
NM_000603.5:c.2984+15_2984+17del MANE Select NP_000594.2:n.2984+15_2984+17del
Search 100 bp 5'
Search 100 bp 3'