Canonical Allele Identifier: CA658824594

Gene: NF1

Linked Data

• ClinVar Variation Id: 547695
• ClinVar RCV Id: RCV000660119
• dbSNP Id: rs1060500295
• gnomAD v4: 17-31356539-A-AC
• MyVariant Identifiers: chr17:g.29683563dup (hg19) ; chr17:g.31356545dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31356545dup , CM000679.2:g.31356545dup	GRCh38
NC_000017.10:g.29683563dup , CM000679.1:g.29683563dup	GRCh37
NC_000017.9:g.26707689dup	NCBI36
NG_009018.1:g.266569dup , LRG_214:g.266569dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.7683dup	ENSP00000512431.1:p.Lys2562GlnfsTer9
ENST00000684826.1:c.2265dup	ENSP00000509994.1:p.Lys756GlnfsTer9
ENST00000687027.1:c.1857dup	ENSP00000508715.1:p.Lys620GlnfsTer9
ENST00000687863.1:n.4346dup
ENST00000689464.1:c.751dup
ENST00000691014.1:c.7731dup	ENSP00000510595.1:p.Lys2578GlnfsTer9
ENST00000693617.1:c.2265dup	ENSP00000510031.1:p.Lys756GlnfsTer9
ENST00000358273.9:c.7701dup MANE Select	ENSP00000351015.4:p.Lys2568GlnfsTer9
ENST00000356175.7:c.7638dup	ENSP00000348498.3:p.Lys2547GlnfsTer9
ENST00000358273.8:c.7701dup	ENSP00000351015.4:p.Lys2568GlnfsTer9
ENST00000456735.6:c.6636dup	ENSP00000389907.2:p.Lys2213GlnfsTer9
ENST00000471572.6:c.1084dup
ENST00000577967.1:n.742dup
ENST00000579081.5:c.7837dup	ENSP00000462408.1:n.7837dup
ENST00000581790.5:c.686dup
NM_000267.3:c.7638dup , LRG_214t1:c.7638dup	NP_000258.1:p.Lys2547GlnfsTer9
NM_001042492.2:c.7701dup , LRG_214t2:c.7701dup	NP_001035957.1:p.Lys2568GlnfsTer9
XM_005257983.1:c.7701dup	XP_005258040.1:p.Lys2568GlnfsTer9
XM_005257984.1:c.7638dup	XP_005258041.1:p.Lys2547GlnfsTer9
XM_006721922.1:c.7731dup	XP_006721985.1:p.Lys2578GlnfsTer9
XM_006721923.2:c.7692dup	XP_006721986.1:p.Lys2565GlnfsTer9
XM_006721924.1:c.7731dup	XP_006721987.1:p.Lys2578GlnfsTer9
XM_006721925.1:c.7668dup	XP_006721988.1:p.Lys2557GlnfsTer9
XM_006721926.2:c.7731dup	XP_006721989.1:p.Lys2578GlnfsTer9
XM_006721927.1:c.7731dup	XP_006721990.1:p.Lys2578GlnfsTer9
XM_011524852.1:c.7728dup	XP_011523154.1:p.Lys2577GlnfsTer9
XM_011524853.1:c.7692dup	XP_011523155.1:p.Lys2565GlnfsTer9
XM_011524854.1:c.7692dup	XP_011523156.1:p.Lys2565GlnfsTer9
XM_011524855.1:c.7692dup	XP_011523157.1:p.Lys2565GlnfsTer9
XM_011524856.1:c.7692dup	XP_011523158.1:p.Lys2565GlnfsTer9
XM_011524857.1:c.7646-415dup	XP_011523159.1:n.7646-415dup
NM_001042492.3:c.7701dup MANE Select	NP_001035957.1:p.Lys2568GlnfsTer9