Canonical Allele Identifier: CA890267972

Gene: NOS1AP

Linked Data

• dbSNP Id: rs1237323569
• gnomAD v3: 1-162199443-C-CCTCTCCA
• gnomAD v4: 1-162199443-C-CCTCTCCA
• MyVariant Identifiers: chr1:g.162169233_162169234insCTCTCCA (hg19) ; chr1:g.162199443_162199444insCTCTCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.162199446_162199452dup , CM000663.2:g.162199446_162199452dup	GRCh38
NC_000001.10:g.162169236_162169242dup , CM000663.1:g.162169236_162169242dup	GRCh37
NC_000001.9:g.160435860_160435866dup	NCBI36
NG_015979.1:g.134656_134662dup
NG_015979.2:g.134656_134662dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361897.10:c.177+44970_177+44976dup MANE Select	ENSP00000355133.5:n.177+44970_177+44976dup
ENST00000361897.9:c.177+44970_177+44976dup	ENSP00000355133.5:n.177+44970_177+44976dup
ENST00000430120.3:c.177+44970_177+44976dup	ENSP00000396713.3:n.177+44970_177+44976dup
ENST00000530878.5:c.177+44970_177+44976dup	ENSP00000431586.1:n.177+44970_177+44976dup
NM_001164757.1:c.177+44970_177+44976dup	NP_001158229.1:n.177+44970_177+44976dup
NM_014697.2:c.177+44970_177+44976dup	NP_055512.1:n.177+44970_177+44976dup
NM_014697.3:c.177+44970_177+44976dup MANE Select	NP_055512.1:n.177+44970_177+44976dup
NM_001164757.2:c.177+44970_177+44976dup	NP_001158229.1:n.177+44970_177+44976dup