Canonical Allele Identifier: CA4566964

Gene: NOS3

Linked Data

• dbSNP Id: rs768659455
• ExAC: 7:150698530 GCT / G
• gnomAD v2: 7-150698530-GCT-G
• gnomAD v4: 7-151001442-GCT-G
• MyVariant Identifiers: chr7:g.150698531_150698532del (hg19) ; chr7:g.151001443_151001444del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151001445_151001446del , CM000669.2:g.151001445_151001446del	GRCh38
NC_000007.13:g.150698533_150698534del , CM000669.1:g.150698533_150698534del	GRCh37
NC_000007.12:g.150329466_150329467del	NCBI36
NG_011992.1:g.15387_15388del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297494.8:c.1428+20_1428+21del MANE Select	ENSP00000297494.3:n.1428+20_1428+21del
ENST00000297494.7:c.1428+20_1428+21del	ENSP00000297494.3:n.1428+20_1428+21del
ENST00000461406.5:c.810+20_810+21del	ENSP00000417143.1:n.810+20_810+21del
ENST00000467517.1:c.1428+20_1428+21del	ENSP00000420551.1:n.1428+20_1428+21del
ENST00000484524.5:c.1428+20_1428+21del	ENSP00000420215.1:n.1428+20_1428+21del
NM_000603.4:c.1428+20_1428+21del	NP_000594.2:n.1428+20_1428+21del
NM_001160109.1:c.1428+20_1428+21del	NP_001153581.1:n.1428+20_1428+21del
NM_001160110.1:c.1428+20_1428+21del	NP_001153582.1:n.1428+20_1428+21del
NM_001160111.1:c.1428+20_1428+21del	NP_001153583.1:n.1428+20_1428+21del
XM_006716002.2:c.1428+20_1428+21del	XP_006716065.1:n.1428+20_1428+21del
NM_000603.5:c.1428+20_1428+21del MANE Select	NP_000594.2:n.1428+20_1428+21del
NM_001160109.2:c.1428+20_1428+21del	NP_001153581.1:n.1428+20_1428+21del