Canonical Allele Identifier: CA2255573390

Gene: NF1

Linked Data

• ClinVar Variation Id: 996464
• ClinVar RCV Id: RCV001290873
• dbSNP Id: rs2067620512

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31258363dup , CM000679.2:g.31258363dup	GRCh38
NC_000017.10:g.29585381dup , CM000679.1:g.29585381dup	GRCh37
NC_000017.9:g.26609507dup	NCBI36
NG_009018.1:g.168387dup , LRG_214:g.168387dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.4175dup	ENSP00000512431.1:p.Gln1393SerfsTer25
ENST00000696140.1:n.299dup
ENST00000696141.1:c.184dup
ENST00000687863.1:n.838dup
ENST00000691014.1:c.4223dup	ENSP00000510595.1:p.Gln1409SerfsTer25
ENST00000691649.1:n.165dup
ENST00000358273.9:c.4193dup MANE Select	ENSP00000351015.4:p.Gln1399SerfsTer25
ENST00000356175.7:c.4130dup	ENSP00000348498.3:p.Gln1378SerfsTer25
ENST00000358273.8:c.4193dup	ENSP00000351015.4:p.Gln1399SerfsTer25
ENST00000456735.6:c.3128dup	ENSP00000389907.2:p.Gln1044SerfsTer25
ENST00000466819.5:c.709dup
ENST00000479614.1:c.646dup
ENST00000493220.5:n.2666dup
ENST00000579081.5:c.4232dup	ENSP00000462408.1:p.Gln1412SerfsTer25
NM_000267.3:c.4130dup , LRG_214t1:c.4130dup	NP_000258.1:p.Gln1378SerfsTer25
NM_001042492.2:c.4193dup , LRG_214t2:c.4193dup	NP_001035957.1:p.Gln1399SerfsTer25
XM_005257983.1:c.4193dup	XP_005258040.1:p.Gln1399SerfsTer25
XM_005257984.1:c.4130dup	XP_005258041.1:p.Gln1378SerfsTer25
XM_006721922.1:c.4223dup	XP_006721985.1:p.Gln1409SerfsTer25
XM_006721923.2:c.4184dup	XP_006721986.1:p.Gln1396SerfsTer25
XM_006721924.1:c.4223dup	XP_006721987.1:p.Gln1409SerfsTer25
XM_006721925.1:c.4160dup	XP_006721988.1:p.Gln1388SerfsTer25
XM_006721926.2:c.4223dup	XP_006721989.1:p.Gln1409SerfsTer25
XM_006721927.1:c.4223dup	XP_006721990.1:p.Gln1409SerfsTer25
XM_006721928.2:c.4223dup	XP_006721991.1:p.Gln1409SerfsTer25
XM_011524852.1:c.4220dup	XP_011523154.1:p.Gln1408SerfsTer25
XM_011524853.1:c.4184dup	XP_011523155.1:p.Gln1396SerfsTer25
XM_011524854.1:c.4184dup	XP_011523156.1:p.Gln1396SerfsTer25
XM_011524855.1:c.4184dup	XP_011523157.1:p.Gln1396SerfsTer25
XM_011524856.1:c.4184dup	XP_011523158.1:p.Gln1396SerfsTer25
XM_011524857.1:c.4223dup	XP_011523159.1:p.Gln1409SerfsTer25
NM_001042492.3:c.4193dup MANE Select	NP_001035957.1:p.Gln1399SerfsTer25