Canonical Allele Identifier: CA2739267414

Gene: NF1

Linked Data

• ClinVar Variation Id: 2815220
• ClinVar RCV Id: RCV003599072

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265275dup , CM000679.2:g.31265275dup	GRCh38
NC_000017.10:g.29592293dup , CM000679.1:g.29592293dup	GRCh37
NC_000017.9:g.26616419dup	NCBI36
NG_009018.1:g.175299dup , LRG_214:g.175299dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.573dup	ENSP00000492721.2:n.573dup
ENST00000696138.1:c.4753dup	ENSP00000512431.1:p.Ser1585LysfsTer?
ENST00000696140.1:n.877dup
ENST00000696141.1:c.762dup
ENST00000687863.1:n.1416dup
ENST00000691014.1:c.4801dup	ENSP00000510595.1:p.Ser1601LysfsTer?
ENST00000358273.9:c.4771dup MANE Select	ENSP00000351015.4:p.Ser1591LysfsTer?
ENST00000356175.7:c.4708dup	ENSP00000348498.3:p.Ser1570LysfsTer?
ENST00000358273.8:c.4771dup	ENSP00000351015.4:p.Ser1591LysfsTer?
ENST00000456735.6:c.3706dup	ENSP00000389907.2:p.Ser1236LysfsTer?
ENST00000493220.5:n.3244dup
ENST00000579081.5:c.4810dup	ENSP00000462408.1:p.Ser1604LysfsTer?
NM_000267.3:c.4708dup , LRG_214t1:c.4708dup	NP_000258.1:p.Ser1570LysfsTer?
NM_001042492.2:c.4771dup , LRG_214t2:c.4771dup	NP_001035957.1:p.Ser1591LysfsTer?
XM_005257983.1:c.4771dup	XP_005258040.1:p.Ser1591LysfsTer?
XM_005257984.1:c.4708dup	XP_005258041.1:p.Ser1570LysfsTer?
XM_006721922.1:c.4801dup	XP_006721985.1:p.Ser1601LysfsTer?
XM_006721923.2:c.4762dup	XP_006721986.1:p.Ser1588LysfsTer?
XM_006721924.1:c.4801dup	XP_006721987.1:p.Ser1601LysfsTer?
XM_006721925.1:c.4738dup	XP_006721988.1:p.Ser1580LysfsTer?
XM_006721926.2:c.4801dup	XP_006721989.1:p.Ser1601LysfsTer?
XM_006721927.1:c.4801dup	XP_006721990.1:p.Ser1601LysfsTer?
XM_006721928.2:c.4801dup	XP_006721991.1:p.Ser1601LysfsTer?
XM_011524852.1:c.4798dup	XP_011523154.1:p.Ser1600LysfsTer?
XM_011524853.1:c.4762dup	XP_011523155.1:p.Ser1588LysfsTer?
XM_011524854.1:c.4762dup	XP_011523156.1:p.Ser1588LysfsTer?
XM_011524855.1:c.4762dup	XP_011523157.1:p.Ser1588LysfsTer?
XM_011524856.1:c.4762dup	XP_011523158.1:p.Ser1588LysfsTer?
XM_011524857.1:c.4801dup	XP_011523159.1:p.Ser1601LysfsTer?
NM_001042492.3:c.4771dup MANE Select	NP_001035957.1:p.Ser1591LysfsTer?