Canonical Allele Identifier: CA658824757

Gene: NF1

Linked Data

• ClinVar Variation Id: 561974
• ClinVar RCV Id: RCV000681436
• dbSNP Id: rs1567851501
• MyVariant Identifiers: chr17:g.29560200dup (hg19) ; chr17:g.31233182dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233182dup , CM000679.2:g.31233182dup	GRCh38
NC_000017.10:g.29560200dup , CM000679.1:g.29560200dup	GRCh37
NC_000017.9:g.26584326dup	NCBI36
NG_009018.1:g.143206dup , LRG_214:g.143206dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3722dup	ENSP00000512431.1:p.Leu1242SerfsTer12
ENST00000696139.1:c.1022dup	ENSP00000512432.1:p.Leu342SerfsTer12
ENST00000691014.1:c.3707dup	ENSP00000510595.1:p.Leu1237SerfsTer12
ENST00000693210.1:n.403dup
ENST00000358273.9:c.3677dup MANE Select	ENSP00000351015.4:p.Leu1227SerfsTer12
ENST00000356175.7:c.3677dup	ENSP00000348498.3:p.Leu1227SerfsTer12
ENST00000358273.8:c.3677dup	ENSP00000351015.4:p.Leu1227SerfsTer12
ENST00000456735.6:c.2675dup	ENSP00000389907.2:p.Leu893SerfsTer12
ENST00000466819.5:c.153dup
ENST00000479614.1:c.153dup
ENST00000493220.5:n.2213dup
ENST00000495910.6:c.3452dup
ENST00000579081.5:c.3779dup	ENSP00000462408.1:p.Leu1261SerfsTer12
NM_000267.3:c.3677dup , LRG_214t1:c.3677dup	NP_000258.1:p.Leu1227SerfsTer12
NM_001042492.2:c.3677dup , LRG_214t2:c.3677dup	NP_001035957.1:p.Leu1227SerfsTer12
XM_005257983.1:c.3677dup	XP_005258040.1:p.Leu1227SerfsTer12
XM_005257984.1:c.3677dup	XP_005258041.1:p.Leu1227SerfsTer12
XM_006721922.1:c.3707dup	XP_006721985.1:p.Leu1237SerfsTer12
XM_006721923.2:c.3668dup	XP_006721986.1:p.Leu1224SerfsTer12
XM_006721924.1:c.3707dup	XP_006721987.1:p.Leu1237SerfsTer12
XM_006721925.1:c.3707dup	XP_006721988.1:p.Leu1237SerfsTer12
XM_006721926.2:c.3707dup	XP_006721989.1:p.Leu1237SerfsTer12
XM_006721927.1:c.3707dup	XP_006721990.1:p.Leu1237SerfsTer12
XM_006721928.2:c.3707dup	XP_006721991.1:p.Leu1237SerfsTer12
XM_011524852.1:c.3704dup	XP_011523154.1:p.Leu1236SerfsTer12
XM_011524853.1:c.3668dup	XP_011523155.1:p.Leu1224SerfsTer12
XM_011524854.1:c.3668dup	XP_011523156.1:p.Leu1224SerfsTer12
XM_011524855.1:c.3668dup	XP_011523157.1:p.Leu1224SerfsTer12
XM_011524856.1:c.3668dup	XP_011523158.1:p.Leu1224SerfsTer12
XM_011524857.1:c.3707dup	XP_011523159.1:p.Leu1237SerfsTer12
NM_001042492.3:c.3677dup MANE Select	NP_001035957.1:p.Leu1227SerfsTer12