Canonical Allele Identifier: CA2580093282

Gene: NF1

Linked Data

• ClinVar Variation Id: 1757283
• ClinVar RCV Id: RCV002378332

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343134dup , CM000679.2:g.31343134dup	GRCh38
NC_000017.10:g.29670152dup , CM000679.1:g.29670152dup	GRCh37
NC_000017.9:g.26694278dup	NCBI36
NG_009018.1:g.253158dup , LRG_214:g.253158dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7170dup	ENSP00000512431.1:p.Gly2391ArgfsTer25
ENST00000684826.1:c.1752dup	ENSP00000509994.1:p.Gly585ArgfsTer25
ENST00000687027.1:c.1344dup	ENSP00000508715.1:p.Gly449ArgfsTer25
ENST00000687863.1:n.3833dup
ENST00000689464.1:c.127dup
ENST00000691014.1:c.7218dup	ENSP00000510595.1:p.Gly2407ArgfsTer25
ENST00000693617.1:c.1752dup	ENSP00000510031.1:p.Gly585ArgfsTer25
ENST00000358273.9:c.7188dup MANE Select	ENSP00000351015.4:p.Gly2397ArgfsTer25
ENST00000356175.7:c.7125dup	ENSP00000348498.3:p.Gly2376ArgfsTer25
ENST00000358273.8:c.7188dup	ENSP00000351015.4:p.Gly2397ArgfsTer25
ENST00000456735.6:c.6123dup	ENSP00000389907.2:p.Gly2042ArgfsTer25
ENST00000471572.6:c.571dup
ENST00000579081.5:c.7324dup	ENSP00000462408.1:n.7324dup
ENST00000581790.5:c.331dup
ENST00000582892.1:n.430dup
NM_000267.3:c.7125dup , LRG_214t1:c.7125dup	NP_000258.1:p.Gly2376ArgfsTer25
NM_001042492.2:c.7188dup , LRG_214t2:c.7188dup	NP_001035957.1:p.Gly2397ArgfsTer25
XM_005257983.1:c.7188dup	XP_005258040.1:p.Gly2397ArgfsTer25
XM_005257984.1:c.7125dup	XP_005258041.1:p.Gly2376ArgfsTer25
XM_006721922.1:c.7218dup	XP_006721985.1:p.Gly2407ArgfsTer25
XM_006721923.2:c.7179dup	XP_006721986.1:p.Gly2394ArgfsTer25
XM_006721924.1:c.7218dup	XP_006721987.1:p.Gly2407ArgfsTer25
XM_006721925.1:c.7155dup	XP_006721988.1:p.Gly2386ArgfsTer25
XM_006721926.2:c.7218dup	XP_006721989.1:p.Gly2407ArgfsTer25
XM_006721927.1:c.7218dup	XP_006721990.1:p.Gly2407ArgfsTer25
XM_011524852.1:c.7215dup	XP_011523154.1:p.Gly2406ArgfsTer25
XM_011524853.1:c.7179dup	XP_011523155.1:p.Gly2394ArgfsTer25
XM_011524854.1:c.7179dup	XP_011523156.1:p.Gly2394ArgfsTer25
XM_011524855.1:c.7179dup	XP_011523157.1:p.Gly2394ArgfsTer25
XM_011524856.1:c.7179dup	XP_011523158.1:p.Gly2394ArgfsTer25
XM_011524857.1:c.7218dup	XP_011523159.1:p.Gly2407ArgfsTer25
NM_001042492.3:c.7188dup MANE Select	NP_001035957.1:p.Gly2397ArgfsTer25