Canonical Allele Identifier: CA1108714643

Gene: NOS3

Linked Data

• dbSNP Id: rs1802277428
• gnomAD v3: 7-150992624-CAG-C
• gnomAD v4: 7-150992624-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150992625_150992626del , CM000669.2:g.150992625_150992626del	GRCh38
NC_000007.13:g.150689713_150689714del , CM000669.1:g.150689713_150689714del	GRCh37
NC_000007.12:g.150320646_150320647del	NCBI36
NG_011992.1:g.6567_6568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297494.8:c.-51-1128_-51-1127del MANE Select	ENSP00000297494.3:n.-51-1128_-51-1127del
ENST00000297494.7:c.-51-1128_-51-1127del	ENSP00000297494.3:n.-51-1128_-51-1127del
ENST00000461406.5:c.-149+1325_-149+1326del	ENSP00000417143.1:n.-149+1325_-149+1326del
NM_000603.4:c.-51-1128_-51-1127del	NP_000594.2:n.-51-1128_-51-1127del
NM_000603.5:c.-51-1128_-51-1127del MANE Select	NP_000594.2:n.-51-1128_-51-1127del