Canonical Allele Identifier: CA684149404

Gene: NOS1

Linked Data

• dbSNP Id: rs1448782689
• gnomAD v3: 12-117300413-CA-C
• gnomAD v4: 12-117300413-CA-C
• MyVariant Identifiers: chr12:g.117738219del (hg19) ; chr12:g.117300414del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117300416del , CM000674.2:g.117300416del	GRCh38
NC_000012.11:g.117738221del , CM000674.1:g.117738221del	GRCh37
NC_000012.10:g.116222604del	NCBI36
NG_011991.2:g.66364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.853-9988del MANE Select	ENSP00000320758.6:n.853-9988del
ENST00000317775.10:c.853-9988del	ENSP00000320758.6:n.853-9988del
ENST00000338101.8:c.853-9988del	ENSP00000337459.4:n.853-9988del
ENST00000344089.4:c.850-9988del	ENSP00000339862.4:n.850-9988del
ENST00000618760.4:c.853-9988del	ENSP00000477999.1:n.853-9988del
NM_000620.4:c.853-9988del	NP_000611.1:n.853-9988del
NM_001204213.1:c.-157+1602del	NP_001191142.1:n.-157+1602del
NM_001204214.1:c.-157+1602del	NP_001191143.1:n.-157+1602del
NM_001204218.1:c.853-9988del	NP_001191147.1:n.853-9988del
XM_011538398.1:c.853-9988del	XP_011536700.1:n.853-9988del
NM_000620.5:c.853-9988del MANE Select	NP_000611.1:n.853-9988del
NM_001204213.2:c.-157+1602del	NP_001191142.1:n.-157+1602del
NM_001204214.2:c.-157+1602del	NP_001191143.1:n.-157+1602del
NM_001204218.2:c.853-9988del	NP_001191147.1:n.853-9988del