Canonical Allele Identifier: CA16044137

Gene: NF1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31340535dup , CM000679.2:g.31340535dup	GRCh38
NC_000017.10:g.29667553dup , CM000679.1:g.29667553dup	GRCh37
NC_000017.9:g.26691679dup	NCBI36
NG_009018.1:g.250559dup , LRG_214:g.250559dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6934dup	ENSP00000512431.1:p.Val2312GlyfsTer9
ENST00000684826.1:c.1516dup	ENSP00000509994.1:p.Val506GlyfsTer9
ENST00000684998.1:n.4473dup
ENST00000687027.1:c.1108dup	ENSP00000508715.1:p.Val370GlyfsTer9
ENST00000687863.1:n.3597dup
ENST00000691014.1:c.6982dup	ENSP00000510595.1:p.Val2328GlyfsTer9
ENST00000693617.1:c.1516dup	ENSP00000510031.1:p.Val506GlyfsTer9
ENST00000358273.9:c.6952dup MANE Select	ENSP00000351015.4:p.Val2318GlyfsTer9
ENST00000356175.7:c.6889dup	ENSP00000348498.3:p.Val2297GlyfsTer9
ENST00000358273.8:c.6952dup	ENSP00000351015.4:p.Val2318GlyfsTer9
ENST00000456735.6:c.5887dup	ENSP00000389907.2:p.Val1963GlyfsTer9
ENST00000471572.6:c.335dup
ENST00000579081.5:c.7088dup	ENSP00000462408.1:n.7088dup
ENST00000581790.5:c.95dup
ENST00000582892.1:n.256dup
ENST00000584328.1:n.366dup
NM_000267.3:c.6889dup , LRG_214t1:c.6889dup	NP_000258.1:p.Val2297GlyfsTer9
NM_001042492.2:c.6952dup , LRG_214t2:c.6952dup	NP_001035957.1:p.Val2318GlyfsTer9
XM_005257983.1:c.6952dup	XP_005258040.1:p.Val2318GlyfsTer9
XM_005257984.1:c.6889dup	XP_005258041.1:p.Val2297GlyfsTer9
XM_006721922.1:c.6982dup	XP_006721985.1:p.Val2328GlyfsTer9
XM_006721923.2:c.6943dup	XP_006721986.1:p.Val2315GlyfsTer9
XM_006721924.1:c.6982dup	XP_006721987.1:p.Val2328GlyfsTer9
XM_006721925.1:c.6919dup	XP_006721988.1:p.Val2307GlyfsTer9
XM_006721926.2:c.6982dup	XP_006721989.1:p.Val2328GlyfsTer9
XM_006721927.1:c.6982dup	XP_006721990.1:p.Val2328GlyfsTer9
XM_011524852.1:c.6979dup	XP_011523154.1:p.Val2327GlyfsTer9
XM_011524853.1:c.6943dup	XP_011523155.1:p.Val2315GlyfsTer9
XM_011524854.1:c.6943dup	XP_011523156.1:p.Val2315GlyfsTer9
XM_011524855.1:c.6943dup	XP_011523157.1:p.Val2315GlyfsTer9
XM_011524856.1:c.6943dup	XP_011523158.1:p.Val2315GlyfsTer9
XM_011524857.1:c.6982dup	XP_011523159.1:p.Val2328GlyfsTer9
NM_001042492.3:c.6952dup MANE Select	NP_001035957.1:p.Val2318GlyfsTer9