Canonical Allele Identifier: CA526981039

Gene: NOS1AP

Linked Data

• dbSNP Id: rs1378318312
• gnomAD v2: 1-162169396-G-GTGTC
• gnomAD v3: 1-162199606-G-GTGTC
• gnomAD v4: 1-162199606-G-GTGTC
• MyVariant Identifiers: chr1:g.162169396_162169397insTGTC (hg19) ; chr1:g.162199606_162199607insTGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.162199609_162199610insCTGT , CM000663.2:g.162199609_162199610insCTGT	GRCh38
NC_000001.10:g.162169399_162169400insCTGT , CM000663.1:g.162169399_162169400insCTGT	GRCh37
NC_000001.9:g.160436023_160436024insCTGT	NCBI36
NG_015979.1:g.134819_134820insCTGT
NG_015979.2:g.134819_134820insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361897.10:c.177+45133_177+45134insCTGT MANE Select	ENSP00000355133.5:n.177+45133_177+45134insCTGT
ENST00000361897.9:c.177+45133_177+45134insCTGT	ENSP00000355133.5:n.177+45133_177+45134insCTGT
ENST00000430120.3:c.177+45133_177+45134insCTGT	ENSP00000396713.3:n.177+45133_177+45134insCTGT
ENST00000530878.5:c.177+45133_177+45134insCTGT	ENSP00000431586.1:n.177+45133_177+45134insCTGT
NM_001164757.1:c.177+45133_177+45134insCTGT	NP_001158229.1:n.177+45133_177+45134insCTGT
NM_014697.2:c.177+45133_177+45134insCTGT	NP_055512.1:n.177+45133_177+45134insCTGT
NM_014697.3:c.177+45133_177+45134insCTGT MANE Select	NP_055512.1:n.177+45133_177+45134insCTGT
NM_001164757.2:c.177+45133_177+45134insCTGT	NP_001158229.1:n.177+45133_177+45134insCTGT