Canonical Allele Identifier: CA658798811

Gene: NF1

Linked Data

• ClinVar Variation Id: 523346
• ClinVar RCV Id: RCV000626645
• dbSNP Id: rs1555619420
• MyVariant Identifiers: chr17:g.29592350dup (hg19) ; chr17:g.31265332dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265332dup , CM000679.2:g.31265332dup	GRCh38
NC_000017.10:g.29592350dup , CM000679.1:g.29592350dup	GRCh37
NC_000017.9:g.26616476dup	NCBI36
NG_009018.1:g.175356dup , LRG_214:g.175356dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.630dup	ENSP00000492721.2:n.630dup
ENST00000696138.1:c.4810dup	ENSP00000512431.1:p.Ala1604GlyfsTer12
ENST00000696140.1:n.934dup
ENST00000696141.1:c.819dup
ENST00000687863.1:n.1473dup
ENST00000691014.1:c.4858dup	ENSP00000510595.1:p.Ala1620GlyfsTer12
ENST00000358273.9:c.4828dup MANE Select	ENSP00000351015.4:p.Ala1610GlyfsTer12
ENST00000356175.7:c.4765dup	ENSP00000348498.3:p.Ala1589GlyfsTer12
ENST00000358273.8:c.4828dup	ENSP00000351015.4:p.Ala1610GlyfsTer12
ENST00000456735.6:c.3763dup	ENSP00000389907.2:p.Ala1255GlyfsTer12
ENST00000493220.5:n.3301dup
ENST00000579081.5:c.4867dup	ENSP00000462408.1:p.Ala1623GlyfsTer21
NM_000267.3:c.4765dup , LRG_214t1:c.4765dup	NP_000258.1:p.Ala1589GlyfsTer12
NM_001042492.2:c.4828dup , LRG_214t2:c.4828dup	NP_001035957.1:p.Ala1610GlyfsTer12
XM_005257983.1:c.4828dup	XP_005258040.1:p.Ala1610GlyfsTer12
XM_005257984.1:c.4765dup	XP_005258041.1:p.Ala1589GlyfsTer12
XM_006721922.1:c.4858dup	XP_006721985.1:p.Ala1620GlyfsTer12
XM_006721923.2:c.4819dup	XP_006721986.1:p.Ala1607GlyfsTer12
XM_006721924.1:c.4858dup	XP_006721987.1:p.Ala1620GlyfsTer12
XM_006721925.1:c.4795dup	XP_006721988.1:p.Ala1599GlyfsTer12
XM_006721926.2:c.4858dup	XP_006721989.1:p.Ala1620GlyfsTer12
XM_006721927.1:c.4858dup	XP_006721990.1:p.Ala1620GlyfsTer12
XM_006721928.2:c.4858dup	XP_006721991.1:p.Ala1620GlyfsTer?
XM_011524852.1:c.4855dup	XP_011523154.1:p.Ala1619GlyfsTer12
XM_011524853.1:c.4819dup	XP_011523155.1:p.Ala1607GlyfsTer12
XM_011524854.1:c.4819dup	XP_011523156.1:p.Ala1607GlyfsTer12
XM_011524855.1:c.4819dup	XP_011523157.1:p.Ala1607GlyfsTer12
XM_011524856.1:c.4819dup	XP_011523158.1:p.Ala1607GlyfsTer12
XM_011524857.1:c.4858dup	XP_011523159.1:p.Ala1620GlyfsTer12
NM_001042492.3:c.4828dup MANE Select	NP_001035957.1:p.Ala1610GlyfsTer12