Canonical Allele Identifier: CA658824593

Gene: NF1

Linked Data

• ClinVar Variation Id: 547693
• ClinVar RCV Id: RCV000660116
• dbSNP Id: rs1555535448

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343115_31343124delinsCAGC , CM000679.2:g.31343115_31343124delinsCAGC	GRCh38
NC_000017.10:g.29670133_29670142delinsCAGC , CM000679.1:g.29670133_29670142delinsCAGC	GRCh37
NC_000017.9:g.26694259_26694268delinsCAGC	NCBI36
NG_009018.1:g.253139_253148delinsCAGC , LRG_214:g.253139_253148delinsCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7151_7160delinsCAGC	ENSP00000512431.1:p.Leu2384_His2387delinsSerAla
ENST00000684826.1:c.1733_1742delinsCAGC	ENSP00000509994.1:p.Leu578_His581delinsSerAla
ENST00000687027.1:c.1325_1334delinsCAGC	ENSP00000508715.1:p.Leu442_His445delinsSerAla
ENST00000687863.1:n.3814_3823delinsCAGC
ENST00000689464.1:c.108_117delinsCAGC
ENST00000691014.1:c.7199_7208delinsCAGC	ENSP00000510595.1:p.Leu2400_His2403delinsSerAla
ENST00000693617.1:c.1733_1742delinsCAGC	ENSP00000510031.1:p.Leu578_His581delinsSerAla
ENST00000358273.9:c.7169_7178delinsCAGC MANE Select	ENSP00000351015.4:p.Leu2390_His2393delinsSerAla
ENST00000356175.7:c.7106_7115delinsCAGC	ENSP00000348498.3:p.Leu2369_His2372delinsSerAla
ENST00000358273.8:c.7169_7178delinsCAGC	ENSP00000351015.4:p.Leu2390_His2393delinsSerAla
ENST00000456735.6:c.6104_6113delinsCAGC	ENSP00000389907.2:p.Leu2035_His2038delinsSerAla
ENST00000471572.6:c.552_561delinsCAGC
ENST00000579081.5:c.7305_7314delinsCAGC	ENSP00000462408.1:n.7305_7314delinsCAGC
ENST00000581790.5:c.312_321delinsCAGC
ENST00000582892.1:n.411_420delinsCAGC
NM_000267.3:c.7106_7115delinsCAGC , LRG_214t1:c.7106_7115delinsCAGC	NP_000258.1:p.Leu2369_His2372delinsSerAla
NM_001042492.2:c.7169_7178delinsCAGC , LRG_214t2:c.7169_7178delinsCAGC	NP_001035957.1:p.Leu2390_His2393delinsSerAla
XM_005257983.1:c.7169_7178delinsCAGC	XP_005258040.1:p.Leu2390_His2393delinsSerAla
XM_005257984.1:c.7106_7115delinsCAGC	XP_005258041.1:p.Leu2369_His2372delinsSerAla
XM_006721922.1:c.7199_7208delinsCAGC	XP_006721985.1:p.Leu2400_His2403delinsSerAla
XM_006721923.2:c.7160_7169delinsCAGC	XP_006721986.1:p.Leu2387_His2390delinsSerAla
XM_006721924.1:c.7199_7208delinsCAGC	XP_006721987.1:p.Leu2400_His2403delinsSerAla
XM_006721925.1:c.7136_7145delinsCAGC	XP_006721988.1:p.Leu2379_His2382delinsSerAla
XM_006721926.2:c.7199_7208delinsCAGC	XP_006721989.1:p.Leu2400_His2403delinsSerAla
XM_006721927.1:c.7199_7208delinsCAGC	XP_006721990.1:p.Leu2400_His2403delinsSerAla
XM_011524852.1:c.7196_7205delinsCAGC	XP_011523154.1:p.Leu2399_His2402delinsSerAla
XM_011524853.1:c.7160_7169delinsCAGC	XP_011523155.1:p.Leu2387_His2390delinsSerAla
XM_011524854.1:c.7160_7169delinsCAGC	XP_011523156.1:p.Leu2387_His2390delinsSerAla
XM_011524855.1:c.7160_7169delinsCAGC	XP_011523157.1:p.Leu2387_His2390delinsSerAla
XM_011524856.1:c.7160_7169delinsCAGC	XP_011523158.1:p.Leu2387_His2390delinsSerAla
XM_011524857.1:c.7199_7208delinsCAGC	XP_011523159.1:p.Leu2400_His2403delinsSerAla
NM_001042492.3:c.7169_7178delinsCAGC MANE Select	NP_001035957.1:p.Leu2390_His2393delinsSerAla