Canonical Allele Identifier: CA2739267380

Gene: NF1

Linked Data

• ClinVar Variation Id: 2817672
• ClinVar RCV Id: RCV003599121

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233192del , CM000679.2:g.31233192del	GRCh38
NC_000017.10:g.29560210del , CM000679.1:g.29560210del	GRCh37
NC_000017.9:g.26584336del	NCBI36
NG_009018.1:g.143216del , LRG_214:g.143216del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3732del	ENSP00000512431.1:p.Asn1244LysfsTer11
ENST00000696139.1:c.1032del	ENSP00000512432.1:p.Asn344LysfsTer11
ENST00000691014.1:c.3717del	ENSP00000510595.1:p.Asn1239LysfsTer11
ENST00000693210.1:n.413del
ENST00000358273.9:c.3687del MANE Select	ENSP00000351015.4:p.Asn1229LysfsTer11
ENST00000356175.7:c.3687del	ENSP00000348498.3:p.Asn1229LysfsTer11
ENST00000358273.8:c.3687del	ENSP00000351015.4:p.Asn1229LysfsTer11
ENST00000456735.6:c.2685del	ENSP00000389907.2:p.Asn895LysfsTer11
ENST00000466819.5:c.163del
ENST00000479614.1:c.163del
ENST00000493220.5:n.2223del
ENST00000495910.6:c.3462del
ENST00000579081.5:c.3789del	ENSP00000462408.1:p.Asn1263LysfsTer11
NM_000267.3:c.3687del , LRG_214t1:c.3687del	NP_000258.1:p.Asn1229LysfsTer11
NM_001042492.2:c.3687del , LRG_214t2:c.3687del	NP_001035957.1:p.Asn1229LysfsTer11
XM_005257983.1:c.3687del	XP_005258040.1:p.Asn1229LysfsTer11
XM_005257984.1:c.3687del	XP_005258041.1:p.Asn1229LysfsTer11
XM_006721922.1:c.3717del	XP_006721985.1:p.Asn1239LysfsTer11
XM_006721923.2:c.3678del	XP_006721986.1:p.Asn1226LysfsTer11
XM_006721924.1:c.3717del	XP_006721987.1:p.Asn1239LysfsTer11
XM_006721925.1:c.3717del	XP_006721988.1:p.Asn1239LysfsTer11
XM_006721926.2:c.3717del	XP_006721989.1:p.Asn1239LysfsTer11
XM_006721927.1:c.3717del	XP_006721990.1:p.Asn1239LysfsTer11
XM_006721928.2:c.3717del	XP_006721991.1:p.Asn1239LysfsTer11
XM_011524852.1:c.3714del	XP_011523154.1:p.Asn1238LysfsTer11
XM_011524853.1:c.3678del	XP_011523155.1:p.Asn1226LysfsTer11
XM_011524854.1:c.3678del	XP_011523156.1:p.Asn1226LysfsTer11
XM_011524855.1:c.3678del	XP_011523157.1:p.Asn1226LysfsTer11
XM_011524856.1:c.3678del	XP_011523158.1:p.Asn1226LysfsTer11
XM_011524857.1:c.3717del	XP_011523159.1:p.Asn1239LysfsTer11
NM_001042492.3:c.3687del MANE Select	NP_001035957.1:p.Asn1229LysfsTer11