Canonical Allele Identifier: CA2580093286

Gene: NF1

Linked Data

• ClinVar Variation Id: 2004640
• ClinVar RCV Id: RCV002816235

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261718_31261724dup , CM000679.2:g.31261718_31261724dup	GRCh38
NC_000017.10:g.29588736_29588742dup , CM000679.1:g.29588736_29588742dup	GRCh37
NC_000017.9:g.26612862_26612868dup	NCBI36
NG_009018.1:g.171742_171748dup , LRG_214:g.171742_171748dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.387_393dup	ENSP00000492721.2:p.Leu132LysfsTer?
ENST00000696138.1:c.4567_4573dup	ENSP00000512431.1:p.Val1525GlufsTer9
ENST00000696140.1:n.691_697dup
ENST00000696141.1:c.576_582dup
ENST00000687863.1:n.1230_1236dup
ENST00000691014.1:c.4615_4621dup	ENSP00000510595.1:p.Val1541GlufsTer9
ENST00000358273.9:c.4585_4591dup MANE Select	ENSP00000351015.4:p.Val1531GlufsTer9
ENST00000356175.7:c.4522_4528dup	ENSP00000348498.3:p.Val1510GlufsTer9
ENST00000358273.8:c.4585_4591dup	ENSP00000351015.4:p.Val1531GlufsTer9
ENST00000456735.6:c.3520_3526dup	ENSP00000389907.2:p.Val1176GlufsTer9
ENST00000466819.5:c.1101_1107dup
ENST00000479614.1:c.1038_1044dup
ENST00000493220.5:n.3058_3064dup
ENST00000579081.5:c.4624_4630dup	ENSP00000462408.1:p.Val1544GlufsTer9
NM_000267.3:c.4522_4528dup , LRG_214t1:c.4522_4528dup	NP_000258.1:p.Val1510GlufsTer9
NM_001042492.2:c.4585_4591dup , LRG_214t2:c.4585_4591dup	NP_001035957.1:p.Val1531GlufsTer9
XM_005257983.1:c.4585_4591dup	XP_005258040.1:p.Val1531GlufsTer9
XM_005257984.1:c.4522_4528dup	XP_005258041.1:p.Val1510GlufsTer9
XM_006721922.1:c.4615_4621dup	XP_006721985.1:p.Val1541GlufsTer9
XM_006721923.2:c.4576_4582dup	XP_006721986.1:p.Val1528GlufsTer9
XM_006721924.1:c.4615_4621dup	XP_006721987.1:p.Val1541GlufsTer9
XM_006721925.1:c.4552_4558dup	XP_006721988.1:p.Val1520GlufsTer9
XM_006721926.2:c.4615_4621dup	XP_006721989.1:p.Val1541GlufsTer9
XM_006721927.1:c.4615_4621dup	XP_006721990.1:p.Val1541GlufsTer9
XM_006721928.2:c.4615_4621dup	XP_006721991.1:p.Val1541GlufsTer9
XM_011524852.1:c.4612_4618dup	XP_011523154.1:p.Val1540GlufsTer9
XM_011524853.1:c.4576_4582dup	XP_011523155.1:p.Val1528GlufsTer9
XM_011524854.1:c.4576_4582dup	XP_011523156.1:p.Val1528GlufsTer9
XM_011524855.1:c.4576_4582dup	XP_011523157.1:p.Val1528GlufsTer9
XM_011524856.1:c.4576_4582dup	XP_011523158.1:p.Val1528GlufsTer9
XM_011524857.1:c.4615_4621dup	XP_011523159.1:p.Val1541GlufsTer9
NM_001042492.3:c.4585_4591dup MANE Select	NP_001035957.1:p.Val1531GlufsTer9