Canonical Allele Identifier: CA578712663
Gene: NOS3 HGNC NCBI

Linked Data

dbSNP Id: rs1398022195
gnomAD v2: 7-150689782-TTGTC-T
gnomAD v3: 7-150992694-TTGTC-T
gnomAD v4: 7-150992694-TTGTC-T
MyVariant Identifiers: chr7:g.150689783_150689786del (hg19) chr7:g.150992695_150992698del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150992705_150992708del , CM000669.2:g.150992705_150992708del GRCh38
NC_000007.13:g.150689793_150689796del , CM000669.1:g.150689793_150689796del GRCh37
NC_000007.12:g.150320726_150320729del NCBI36
NG_011992.1:g.6647_6650del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297494.8:c.-51-1048_-51-1045del MANE Select ENSP00000297494.3:n.-51-1048_-51-1045del
ENST00000297494.7:c.-51-1048_-51-1045del ENSP00000297494.3:n.-51-1048_-51-1045del
ENST00000461406.5:c.-149+1405_-149+1408del ENSP00000417143.1:n.-149+1405_-149+1408del
NM_000603.4:c.-51-1048_-51-1045del NP_000594.2:n.-51-1048_-51-1045del
NM_000603.5:c.-51-1048_-51-1045del MANE Select NP_000594.2:n.-51-1048_-51-1045del
Search 100 bp 5'
Search 100 bp 3'