Canonical Allele Identifier: CA165662

Gene: NF1

Linked Data

• ClinVar Variation Id: 141513
• ClinVar RCV Id: RCV000130078 ; RCV000204850 ; RCV000265986 ; RCV001009578 ; RCV003460911 ; RCV004551251 ; RCV003162579
• dbSNP Id: rs587781807
• ExAC: 17:29553477 A / AC
• gnomAD v2: 17-29553477-A-AC
• gnomAD v3: 17-31226459-A-AC
• gnomAD v4: 17-31226459-A-AC
• COSMIC: COSM24504 ; COSM1235317 ; COSM1382061 ; COSM4765116 ; COSM4765117
• MyVariant Identifiers: chr17:g.29553484dupC (hg19) ; chr17:g.29553484_29553485insC (hg19) ; chr17:g.29553478_29553479insC (hg19) ; chr17:g.29553477_29553478insC (hg19) ; chr17:g.31226466dupC (hg38) ; chr17:g.31226459_31226460insC (hg38)
• PubMed: PMID:7655472 ; PMID:10712197

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31226466dup , CM000679.2:g.31226466dup	GRCh38
NC_000017.10:g.29553484dup , CM000679.1:g.29553484dup	GRCh37
NC_000017.9:g.26577610dup	NCBI36
NG_009018.1:g.136490dup , LRG_214:g.136490dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.2078dup	ENSP00000512431.1:p.Ile694AspfsTer21
ENST00000691014.1:c.2063dup	ENSP00000510595.1:p.Ile689AspfsTer21
ENST00000358273.9:c.2033dup MANE Select	ENSP00000351015.4:p.Ile679AspfsTer21
ENST00000356175.7:c.2033dup	ENSP00000348498.3:p.Ile679AspfsTer21
ENST00000358273.8:c.2033dup	ENSP00000351015.4:p.Ile679AspfsTer21
ENST00000456735.6:c.1031dup	ENSP00000389907.2:p.Ile345AspfsTer21
ENST00000493220.5:n.200dup
ENST00000495910.6:c.1808dup
ENST00000579081.5:c.2135dup	ENSP00000462408.1:p.Ile713AspfsTer21
NM_000267.3:c.2033dup , LRG_214t1:c.2033dup	NP_000258.1:p.Ile679AspfsTer21
NM_001042492.2:c.2033dup , LRG_214t2:c.2033dup	NP_001035957.1:p.Ile679AspfsTer21
XM_005257983.1:c.2033dup	XP_005258040.1:p.Ile679AspfsTer21
XM_005257984.1:c.2033dup	XP_005258041.1:p.Ile679AspfsTer21
XM_006721922.1:c.2063dup	XP_006721985.1:p.Ile689AspfsTer21
XM_006721923.2:c.2024dup	XP_006721986.1:p.Ile676AspfsTer21
XM_006721924.1:c.2063dup	XP_006721987.1:p.Ile689AspfsTer21
XM_006721925.1:c.2063dup	XP_006721988.1:p.Ile689AspfsTer21
XM_006721926.2:c.2063dup	XP_006721989.1:p.Ile689AspfsTer21
XM_006721927.1:c.2063dup	XP_006721990.1:p.Ile689AspfsTer21
XM_006721928.2:c.2063dup	XP_006721991.1:p.Ile689AspfsTer21
XM_011524852.1:c.2060dup	XP_011523154.1:p.Ile688AspfsTer21
XM_011524853.1:c.2024dup	XP_011523155.1:p.Ile676AspfsTer21
XM_011524854.1:c.2024dup	XP_011523156.1:p.Ile676AspfsTer21
XM_011524855.1:c.2024dup	XP_011523157.1:p.Ile676AspfsTer21
XM_011524856.1:c.2024dup	XP_011523158.1:p.Ile676AspfsTer21
XM_011524857.1:c.2063dup	XP_011523159.1:p.Ile689AspfsTer21
NM_001042492.3:c.2033dup MANE Select	NP_001035957.1:p.Ile679AspfsTer21