Canonical Allele Identifier: CA526981033

Gene: NOS1AP

Linked Data

• dbSNP Id: rs1183126721
• gnomAD v2: 1-162169382-T-TTGCG
• gnomAD v3: 1-162199592-T-TTGCG
• gnomAD v4: 1-162199592-T-TTGCG
• MyVariant Identifiers: chr1:g.162169382_162169383insTGCG (hg19) ; chr1:g.162199592_162199593insTGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.162199595_162199598dup , CM000663.2:g.162199595_162199598dup	GRCh38
NC_000001.10:g.162169385_162169388dup , CM000663.1:g.162169385_162169388dup	GRCh37
NC_000001.9:g.160436009_160436012dup	NCBI36
NG_015979.1:g.134805_134808dup
NG_015979.2:g.134805_134808dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361897.10:c.177+45119_177+45122dup MANE Select	ENSP00000355133.5:n.177+45119_177+45122dup
ENST00000361897.9:c.177+45119_177+45122dup	ENSP00000355133.5:n.177+45119_177+45122dup
ENST00000430120.3:c.177+45119_177+45122dup	ENSP00000396713.3:n.177+45119_177+45122dup
ENST00000530878.5:c.177+45119_177+45122dup	ENSP00000431586.1:n.177+45119_177+45122dup
NM_001164757.1:c.177+45119_177+45122dup	NP_001158229.1:n.177+45119_177+45122dup
NM_014697.2:c.177+45119_177+45122dup	NP_055512.1:n.177+45119_177+45122dup
NM_014697.3:c.177+45119_177+45122dup MANE Select	NP_055512.1:n.177+45119_177+45122dup
NM_001164757.2:c.177+45119_177+45122dup	NP_001158229.1:n.177+45119_177+45122dup