Canonical Allele Identifier: CA526981049

Gene: NOS1AP

Linked Data

• dbSNP Id: rs1238663845
• gnomAD v2: 1-162169425-TG-T
• gnomAD v3: 1-162199635-TG-T
• gnomAD v4: 1-162199635-TG-T
• MyVariant Identifiers: chr1:g.162169426del (hg19) ; chr1:g.162199636del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.162199636del , CM000663.2:g.162199636del	GRCh38
NC_000001.10:g.162169426del , CM000663.1:g.162169426del	GRCh37
NC_000001.9:g.160436050del	NCBI36
NG_015979.1:g.134846del
NG_015979.2:g.134846del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361897.10:c.177+45160del MANE Select	ENSP00000355133.5:n.177+45160del
ENST00000361897.9:c.177+45160del	ENSP00000355133.5:n.177+45160del
ENST00000430120.3:c.177+45160del	ENSP00000396713.3:n.177+45160del
ENST00000530878.5:c.177+45160del	ENSP00000431586.1:n.177+45160del
NM_001164757.1:c.177+45160del	NP_001158229.1:n.177+45160del
NM_014697.2:c.177+45160del	NP_055512.1:n.177+45160del
NM_014697.3:c.177+45160del MANE Select	NP_055512.1:n.177+45160del
NM_001164757.2:c.177+45160del	NP_001158229.1:n.177+45160del