Canonical Allele Identifier: CA2580093287

Gene: NF1

Linked Data

• ClinVar Variation Id: 1741232
• ClinVar RCV Id: RCV002340016

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261720dup , CM000679.2:g.31261720dup	GRCh38
NC_000017.10:g.29588738dup , CM000679.1:g.29588738dup	GRCh37
NC_000017.9:g.26612864dup	NCBI36
NG_009018.1:g.171744dup , LRG_214:g.171744dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.389dup	ENSP00000492721.2:p.Leu131AlafsTer?
ENST00000696138.1:c.4569dup	ENSP00000512431.1:p.Ala1524SerfsTer8
ENST00000696140.1:n.693dup
ENST00000696141.1:c.578dup
ENST00000687863.1:n.1232dup
ENST00000691014.1:c.4617dup	ENSP00000510595.1:p.Ala1540SerfsTer8
ENST00000358273.9:c.4587dup MANE Select	ENSP00000351015.4:p.Ala1530SerfsTer8
ENST00000356175.7:c.4524dup	ENSP00000348498.3:p.Ala1509SerfsTer8
ENST00000358273.8:c.4587dup	ENSP00000351015.4:p.Ala1530SerfsTer8
ENST00000456735.6:c.3522dup	ENSP00000389907.2:p.Ala1175SerfsTer8
ENST00000466819.5:c.1103dup
ENST00000479614.1:c.1040dup
ENST00000493220.5:n.3060dup
ENST00000579081.5:c.4626dup	ENSP00000462408.1:p.Ala1543SerfsTer8
NM_000267.3:c.4524dup , LRG_214t1:c.4524dup	NP_000258.1:p.Ala1509SerfsTer8
NM_001042492.2:c.4587dup , LRG_214t2:c.4587dup	NP_001035957.1:p.Ala1530SerfsTer8
XM_005257983.1:c.4587dup	XP_005258040.1:p.Ala1530SerfsTer8
XM_005257984.1:c.4524dup	XP_005258041.1:p.Ala1509SerfsTer8
XM_006721922.1:c.4617dup	XP_006721985.1:p.Ala1540SerfsTer8
XM_006721923.2:c.4578dup	XP_006721986.1:p.Ala1527SerfsTer8
XM_006721924.1:c.4617dup	XP_006721987.1:p.Ala1540SerfsTer8
XM_006721925.1:c.4554dup	XP_006721988.1:p.Ala1519SerfsTer8
XM_006721926.2:c.4617dup	XP_006721989.1:p.Ala1540SerfsTer8
XM_006721927.1:c.4617dup	XP_006721990.1:p.Ala1540SerfsTer8
XM_006721928.2:c.4617dup	XP_006721991.1:p.Ala1540SerfsTer8
XM_011524852.1:c.4614dup	XP_011523154.1:p.Ala1539SerfsTer8
XM_011524853.1:c.4578dup	XP_011523155.1:p.Ala1527SerfsTer8
XM_011524854.1:c.4578dup	XP_011523156.1:p.Ala1527SerfsTer8
XM_011524855.1:c.4578dup	XP_011523157.1:p.Ala1527SerfsTer8
XM_011524856.1:c.4578dup	XP_011523158.1:p.Ala1527SerfsTer8
XM_011524857.1:c.4617dup	XP_011523159.1:p.Ala1540SerfsTer8
NM_001042492.3:c.4587dup MANE Select	NP_001035957.1:p.Ala1530SerfsTer8