Canonical Allele Identifier: CA16620366

Gene: NF1

Linked Data

• ClinVar Variation Id: 420078
• ClinVar RCV Id: RCV000482277 ; RCV000492776 ; RCV000696868
• dbSNP Id: rs1064794276
• COSMIC: COSM436320 ; COSM436321
• MyVariant Identifiers: chr17:g.29562659_29562662del (hg19) ; chr17:g.31235641_31235644del (hg38)
• PubMed: PMID:1770531 ; PMID:6025371 ; PMID:9375928 ; PMID:10712197 ; PMID:10726756 ; PMID:15221447 ; PMID:16542390 ; PMID:16786042 ; PMID:16835897 ; PMID:17105749 ; PMID:17369502 ; PMID:18172006 ; PMID:19117870 ; PMID:19539839 ; PMID:19920235 ; PMID:20142468 ; PMID:21089071 ; PMID:22041710 ; PMID:22429592 ; PMID:22604720 ; PMID:23047742 ; PMID:23165953 ; PMID:23244495 ; PMID:23354915 ; PMID:23656349 ; PMID:23812910 ; PMID:24219125 ; PMID:25324428 ; PMID:25325900 ; PMID:25951773 ; PMID:26178382 ; PMID:26758488 ; PMID:27170677 ; PMID:27322474 ; PMID:28213670

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31235641_31235644del , CM000679.2:g.31235641_31235644del	GRCh38
NC_000017.10:g.29562659_29562662del , CM000679.1:g.29562659_29562662del	GRCh37
NC_000017.9:g.26586785_26586788del	NCBI36
NG_009018.1:g.145665_145668del , LRG_214:g.145665_145668del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.3784_3787del	ENSP00000512431.1:p.Phe1262IlefsTer18
ENST00000696139.1:c.1084_1087del	ENSP00000512432.1:p.Phe362IlefsTer18
ENST00000687863.1:n.447_450del
ENST00000691014.1:c.3769_3772del	ENSP00000510595.1:p.Phe1257IlefsTer18
ENST00000358273.9:c.3739_3742del MANE Select	ENSP00000351015.4:p.Phe1247IlefsTer18
ENST00000356175.7:c.3739_3742del	ENSP00000348498.3:p.Phe1247IlefsTer18
ENST00000358273.8:c.3739_3742del	ENSP00000351015.4:p.Phe1247IlefsTer18
ENST00000456735.6:c.2737_2740del	ENSP00000389907.2:p.Phe913IlefsTer18
ENST00000466819.5:c.215_218del
ENST00000479614.1:c.215_218del
ENST00000493220.5:n.2275_2278del
ENST00000495910.6:c.3514_3517del
ENST00000579081.5:c.3841_3844del	ENSP00000462408.1:p.Phe1281IlefsTer18
NM_000267.3:c.3739_3742del , LRG_214t1:c.3739_3742del	NP_000258.1:p.Phe1247IlefsTer18
NM_001042492.2:c.3739_3742del , LRG_214t2:c.3739_3742del	NP_001035957.1:p.Phe1247IlefsTer18
XM_005257983.1:c.3739_3742del	XP_005258040.1:p.Phe1247IlefsTer18
XM_005257984.1:c.3739_3742del	XP_005258041.1:p.Phe1247IlefsTer18
XM_006721922.1:c.3769_3772del	XP_006721985.1:p.Phe1257IlefsTer18
XM_006721923.2:c.3730_3733del	XP_006721986.1:p.Phe1244IlefsTer18
XM_006721924.1:c.3769_3772del	XP_006721987.1:p.Phe1257IlefsTer18
XM_006721925.1:c.3769_3772del	XP_006721988.1:p.Phe1257IlefsTer18
XM_006721926.2:c.3769_3772del	XP_006721989.1:p.Phe1257IlefsTer18
XM_006721927.1:c.3769_3772del	XP_006721990.1:p.Phe1257IlefsTer18
XM_006721928.2:c.3769_3772del	XP_006721991.1:p.Phe1257IlefsTer18
XM_011524852.1:c.3766_3769del	XP_011523154.1:p.Phe1256IlefsTer18
XM_011524853.1:c.3730_3733del	XP_011523155.1:p.Phe1244IlefsTer18
XM_011524854.1:c.3730_3733del	XP_011523156.1:p.Phe1244IlefsTer18
XM_011524855.1:c.3730_3733del	XP_011523157.1:p.Phe1244IlefsTer18
XM_011524856.1:c.3730_3733del	XP_011523158.1:p.Phe1244IlefsTer18
XM_011524857.1:c.3769_3772del	XP_011523159.1:p.Phe1257IlefsTer18
NM_001042492.3:c.3739_3742del MANE Select	NP_001035957.1:p.Phe1247IlefsTer18