Canonical Allele Identifier: CA31691892

Gene: NOS1AP

Linked Data

• dbSNP Id: rs58625856
• gnomAD v2: 1-162169385-CGTGTGTGTGT-C
• gnomAD v3: 1-162199595-CGTGTGTGTGT-C
• gnomAD v4: 1-162199595-CGTGTGTGTGT-C
• MyVariant Identifiers: chr1:g.162169404_162169413del (hg19) ; chr1:g.162169386_162169395del (hg19) ; chr1:g.162199614_162199623del (hg38) ; chr1:g.162199596_162199605del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.162199632_162199641del , CM000663.2:g.162199632_162199641del	GRCh38
NC_000001.10:g.162169422_162169431del , CM000663.1:g.162169422_162169431del	GRCh37
NC_000001.9:g.160436046_160436055del	NCBI36
NG_015979.1:g.134842_134851del
NG_015979.2:g.134842_134851del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361897.10:c.177+45156_177+45165del MANE Select	ENSP00000355133.5:n.177+45156_177+45165del
ENST00000361897.9:c.177+45156_177+45165del	ENSP00000355133.5:n.177+45156_177+45165del
ENST00000430120.3:c.177+45156_177+45165del	ENSP00000396713.3:n.177+45156_177+45165del
ENST00000530878.5:c.177+45156_177+45165del	ENSP00000431586.1:n.177+45156_177+45165del
NM_001164757.1:c.177+45156_177+45165del	NP_001158229.1:n.177+45156_177+45165del
NM_014697.2:c.177+45156_177+45165del	NP_055512.1:n.177+45156_177+45165del
NM_014697.3:c.177+45156_177+45165del MANE Select	NP_055512.1:n.177+45156_177+45165del
NM_001164757.2:c.177+45156_177+45165del	NP_001158229.1:n.177+45156_177+45165del