Canonical Allele Identifier: CA350561

Gene: NF1

Linked Data

• ClinVar Variation Id: 220715
• ClinVar RCV Id: RCV000206539 ; RCV000680827 ; RCV001009584 ; RCV001257534 ; RCV002315635
• dbSNP Id: rs864622639
• gnomAD v3: 17-31343097-CTAACTT-C
• gnomAD v4: 17-31343097-CTAACTT-C
• COSMIC: COSM330582 ; COSM5034662 ; COSM5034663
• MyVariant Identifiers: chr17:g.29670123_29670128del (hg19) ; chr17:g.31343105_31343110del (hg38)
• PubMed: PMID:8081387 ; PMID:10862084 ; PMID:12807981 ; PMID:18546366 ; PMID:25293717 ; PMID:25541118

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343105_31343110del , CM000679.2:g.31343105_31343110del	GRCh38
NC_000017.10:g.29670123_29670128del , CM000679.1:g.29670123_29670128del	GRCh37
NC_000017.9:g.26694249_26694254del	NCBI36
NG_009018.1:g.253129_253134del , LRG_214:g.253129_253134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7141_7146del	ENSP00000512431.1:p.Asn2381_Phe2382del
ENST00000684826.1:c.1723_1728del	ENSP00000509994.1:p.Asn575_Phe576del
ENST00000687027.1:c.1315_1320del	ENSP00000508715.1:p.Asn439_Phe440del
ENST00000687863.1:n.3804_3809del
ENST00000689464.1:c.98_103del
ENST00000691014.1:c.7189_7194del	ENSP00000510595.1:p.Asn2397_Phe2398del
ENST00000693617.1:c.1723_1728del	ENSP00000510031.1:p.Asn575_Phe576del
ENST00000358273.9:c.7159_7164del MANE Select	ENSP00000351015.4:p.Asn2387_Phe2388del
ENST00000356175.7:c.7096_7101del	ENSP00000348498.3:p.Asn2366_Phe2367del
ENST00000358273.8:c.7159_7164del	ENSP00000351015.4:p.Asn2387_Phe2388del
ENST00000456735.6:c.6094_6099del	ENSP00000389907.2:p.Asn2032_Phe2033del
ENST00000471572.6:c.542_547del
ENST00000579081.5:c.7295_7300del	ENSP00000462408.1:n.7295_7300del
ENST00000581790.5:c.302_307del
ENST00000582892.1:n.401_406del
NM_000267.3:c.7096_7101del , LRG_214t1:c.7096_7101del	NP_000258.1:p.Asn2366_Phe2367del
NM_001042492.2:c.7159_7164del , LRG_214t2:c.7159_7164del	NP_001035957.1:p.Asn2387_Phe2388del
XM_005257983.1:c.7159_7164del	XP_005258040.1:p.Asn2387_Phe2388del
XM_005257984.1:c.7096_7101del	XP_005258041.1:p.Asn2366_Phe2367del
XM_006721922.1:c.7189_7194del	XP_006721985.1:p.Asn2397_Phe2398del
XM_006721923.2:c.7150_7155del	XP_006721986.1:p.Asn2384_Phe2385del
XM_006721924.1:c.7189_7194del	XP_006721987.1:p.Asn2397_Phe2398del
XM_006721925.1:c.7126_7131del	XP_006721988.1:p.Asn2376_Phe2377del
XM_006721926.2:c.7189_7194del	XP_006721989.1:p.Asn2397_Phe2398del
XM_006721927.1:c.7189_7194del	XP_006721990.1:p.Asn2397_Phe2398del
XM_011524852.1:c.7186_7191del	XP_011523154.1:p.Asn2396_Phe2397del
XM_011524853.1:c.7150_7155del	XP_011523155.1:p.Asn2384_Phe2385del
XM_011524854.1:c.7150_7155del	XP_011523156.1:p.Asn2384_Phe2385del
XM_011524855.1:c.7150_7155del	XP_011523157.1:p.Asn2384_Phe2385del
XM_011524856.1:c.7150_7155del	XP_011523158.1:p.Asn2384_Phe2385del
XM_011524857.1:c.7189_7194del	XP_011523159.1:p.Asn2397_Phe2398del
NM_001042492.3:c.7159_7164del MANE Select	NP_001035957.1:p.Asn2387_Phe2388del