Canonical Allele Identifier: CA193510

Gene: NF1

Linked Data

• ClinVar Variation Id: 185963
• ClinVar RCV Id: RCV000165479 ; RCV000168453 ; RCV000712406 ; RCV001800492 ; RCV003468744 ; RCV004552910
• dbSNP Id: rs1321848637
• COSMIC: COSM220107 ; COSM5731852
• MyVariant Identifiers: chr17:g.29559860_29559863del (hg19) ; chr17:g.29559859_29559862del (hg19) ; chr17:g.31232842_31232845del (hg38) ; chr17:g.31232841_31232844del (hg38)
• PubMed: PMID:9003501 ; PMID:14517963 ; PMID:18546366 ; PMID:21838856

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31232842_31232845del , CM000679.2:g.31232842_31232845del	GRCh38
NC_000017.10:g.29559860_29559863del , CM000679.1:g.29559860_29559863del	GRCh37
NC_000017.9:g.26583986_26583989del	NCBI36
NG_009018.1:g.142866_142869del , LRG_214:g.142866_142869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3502_3505del	ENSP00000512431.1:p.Leu1168MetfsTer4
ENST00000696139.1:c.802_805del	ENSP00000512432.1:p.Leu268MetfsTer4
ENST00000691014.1:c.3487_3490del	ENSP00000510595.1:p.Leu1163MetfsTer4
ENST00000693210.1:n.183_186del
ENST00000358273.9:c.3457_3460del MANE Select	ENSP00000351015.4:p.Leu1153MetfsTer4
ENST00000356175.7:c.3457_3460del	ENSP00000348498.3:p.Leu1153MetfsTer4
ENST00000358273.8:c.3457_3460del	ENSP00000351015.4:p.Leu1153MetfsTer4
ENST00000456735.6:c.2455_2458del	ENSP00000389907.2:p.Leu819MetfsTer4
ENST00000493220.5:n.1993_1996del
ENST00000495910.6:c.3232_3235del
ENST00000579081.5:c.3559_3562del	ENSP00000462408.1:p.Leu1187MetfsTer4
NM_000267.3:c.3457_3460del , LRG_214t1:c.3457_3460del	NP_000258.1:p.Leu1153MetfsTer4
NM_001042492.2:c.3457_3460del , LRG_214t2:c.3457_3460del	NP_001035957.1:p.Leu1153MetfsTer4
XM_005257983.1:c.3457_3460del	XP_005258040.1:p.Leu1153MetfsTer4
XM_005257984.1:c.3457_3460del	XP_005258041.1:p.Leu1153MetfsTer4
XM_006721922.1:c.3487_3490del	XP_006721985.1:p.Leu1163MetfsTer4
XM_006721923.2:c.3448_3451del	XP_006721986.1:p.Leu1150MetfsTer4
XM_006721924.1:c.3487_3490del	XP_006721987.1:p.Leu1163MetfsTer4
XM_006721925.1:c.3487_3490del	XP_006721988.1:p.Leu1163MetfsTer4
XM_006721926.2:c.3487_3490del	XP_006721989.1:p.Leu1163MetfsTer4
XM_006721927.1:c.3487_3490del	XP_006721990.1:p.Leu1163MetfsTer4
XM_006721928.2:c.3487_3490del	XP_006721991.1:p.Leu1163MetfsTer4
XM_011524852.1:c.3484_3487del	XP_011523154.1:p.Leu1162MetfsTer4
XM_011524853.1:c.3448_3451del	XP_011523155.1:p.Leu1150MetfsTer4
XM_011524854.1:c.3448_3451del	XP_011523156.1:p.Leu1150MetfsTer4
XM_011524855.1:c.3448_3451del	XP_011523157.1:p.Leu1150MetfsTer4
XM_011524856.1:c.3448_3451del	XP_011523158.1:p.Leu1150MetfsTer4
XM_011524857.1:c.3487_3490del	XP_011523159.1:p.Leu1163MetfsTer4
NM_001042492.3:c.3457_3460del MANE Select	NP_001035957.1:p.Leu1153MetfsTer4