Canonical Allele Identifier: CA2697559640

Gene: NF1

Linked Data

• ClinVar Variation Id: 2699821
• ClinVar RCV Id: RCV003496077

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338825dup , CM000679.2:g.31338825dup	GRCh38
NC_000017.10:g.29665843dup , CM000679.1:g.29665843dup	GRCh37
NC_000017.9:g.26689969dup	NCBI36
NG_009018.1:g.248849dup , LRG_214:g.248849dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6903+20dup	ENSP00000512431.1:n.6903+20dup
ENST00000684826.1:c.1485+20dup	ENSP00000509994.1:n.1485+20dup
ENST00000684998.1:n.2763dup
ENST00000687027.1:c.1077+20dup	ENSP00000508715.1:n.1077+20dup
ENST00000687863.1:n.3566+20dup
ENST00000691014.1:c.6951+20dup	ENSP00000510595.1:n.6951+20dup
ENST00000693617.1:c.1485+20dup	ENSP00000510031.1:n.1485+20dup
ENST00000358273.9:c.6921+20dup MANE Select	ENSP00000351015.4:n.6921+20dup
ENST00000356175.7:c.6858+20dup	ENSP00000348498.3:n.6858+20dup
ENST00000358273.8:c.6921+20dup	ENSP00000351015.4:n.6921+20dup
ENST00000456735.6:c.5856+20dup	ENSP00000389907.2:n.5856+20dup
ENST00000471572.6:c.304+20dup
ENST00000579081.5:c.7057+20dup	ENSP00000462408.1:n.7057+20dup
ENST00000581790.5:c.64+945dup
ENST00000584328.1:n.335+20dup
NM_000267.3:c.6858+20dup , LRG_214t1:c.6858+20dup	NP_000258.1:n.6858+20dup
NM_001042492.2:c.6921+20dup , LRG_214t2:c.6921+20dup	NP_001035957.1:n.6921+20dup
XM_005257983.1:c.6921+20dup	XP_005258040.1:n.6921+20dup
XM_005257984.1:c.6858+20dup	XP_005258041.1:n.6858+20dup
XM_006721922.1:c.6951+20dup	XP_006721985.1:n.6951+20dup
XM_006721923.2:c.6912+20dup	XP_006721986.1:n.6912+20dup
XM_006721924.1:c.6951+20dup	XP_006721987.1:n.6951+20dup
XM_006721925.1:c.6888+20dup	XP_006721988.1:n.6888+20dup
XM_006721926.2:c.6951+20dup	XP_006721989.1:n.6951+20dup
XM_006721927.1:c.6951+20dup	XP_006721990.1:n.6951+20dup
XM_011524852.1:c.6948+20dup	XP_011523154.1:n.6948+20dup
XM_011524853.1:c.6912+20dup	XP_011523155.1:n.6912+20dup
XM_011524854.1:c.6912+20dup	XP_011523156.1:n.6912+20dup
XM_011524855.1:c.6912+20dup	XP_011523157.1:n.6912+20dup
XM_011524856.1:c.6912+20dup	XP_011523158.1:n.6912+20dup
XM_011524857.1:c.6951+20dup	XP_011523159.1:n.6951+20dup
NM_001042492.3:c.6921+20dup MANE Select	NP_001035957.1:n.6921+20dup