Canonical Allele Identifier: CA526981047

Gene: NOS1AP

Linked Data

• dbSNP Id: rs1339940348
• gnomAD v2: 1-162169422-GTGTGTGTGTC-G
• gnomAD v3: 1-162199632-GTGTGTGTGTC-G
• gnomAD v4: 1-162199632-GTGTGTGTGTC-G
• MyVariant Identifiers: chr1:g.162169423_162169432del (hg19) ; chr1:g.162169430_162169440delinsA (hg19) ; chr1:g.162199633_162199642del (hg38) ; chr1:g.162199640_162199650delinsA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.162199640_162199649del , CM000663.2:g.162199640_162199649del	GRCh38
NC_000001.10:g.162169430_162169439del , CM000663.1:g.162169430_162169439del	GRCh37
NC_000001.9:g.160436054_160436063del	NCBI36
NG_015979.1:g.134850_134859del
NG_015979.2:g.134850_134859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361897.10:c.177+45164_177+45173del MANE Select	ENSP00000355133.5:n.177+45164_177+45173del
ENST00000361897.9:c.177+45164_177+45173del	ENSP00000355133.5:n.177+45164_177+45173del
ENST00000430120.3:c.177+45164_177+45173del	ENSP00000396713.3:n.177+45164_177+45173del
ENST00000530878.5:c.177+45164_177+45173del	ENSP00000431586.1:n.177+45164_177+45173del
NM_001164757.1:c.177+45164_177+45173del	NP_001158229.1:n.177+45164_177+45173del
NM_014697.2:c.177+45164_177+45173del	NP_055512.1:n.177+45164_177+45173del
NM_014697.3:c.177+45164_177+45173del MANE Select	NP_055512.1:n.177+45164_177+45173del
NM_001164757.2:c.177+45164_177+45173del	NP_001158229.1:n.177+45164_177+45173del