Canonical Allele Identifier: CA2499224216

Gene: NF1

Linked Data

• ClinVar Variation Id: 1070994
• ClinVar RCV Id: RCV001383333
• dbSNP Id: rs2151565309

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343124dup , CM000679.2:g.31343124dup	GRCh38
NC_000017.10:g.29670142dup , CM000679.1:g.29670142dup	GRCh37
NC_000017.9:g.26694268dup	NCBI36
NG_009018.1:g.253148dup , LRG_214:g.253148dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7160dup	ENSP00000512431.1:p.His2387GlnfsTer29
ENST00000684826.1:c.1742dup	ENSP00000509994.1:p.His581GlnfsTer29
ENST00000687027.1:c.1334dup	ENSP00000508715.1:p.His445GlnfsTer29
ENST00000687863.1:n.3823dup
ENST00000689464.1:c.117dup
ENST00000691014.1:c.7208dup	ENSP00000510595.1:p.His2403GlnfsTer29
ENST00000693617.1:c.1742dup	ENSP00000510031.1:p.His581GlnfsTer29
ENST00000358273.9:c.7178dup MANE Select	ENSP00000351015.4:p.His2393GlnfsTer29
ENST00000356175.7:c.7115dup	ENSP00000348498.3:p.His2372GlnfsTer29
ENST00000358273.8:c.7178dup	ENSP00000351015.4:p.His2393GlnfsTer29
ENST00000456735.6:c.6113dup	ENSP00000389907.2:p.His2038GlnfsTer29
ENST00000471572.6:c.561dup
ENST00000579081.5:c.7314dup	ENSP00000462408.1:n.7314dup
ENST00000581790.5:c.321dup
ENST00000582892.1:n.420dup
NM_000267.3:c.7115dup , LRG_214t1:c.7115dup	NP_000258.1:p.His2372GlnfsTer29
NM_001042492.2:c.7178dup , LRG_214t2:c.7178dup	NP_001035957.1:p.His2393GlnfsTer29
XM_005257983.1:c.7178dup	XP_005258040.1:p.His2393GlnfsTer29
XM_005257984.1:c.7115dup	XP_005258041.1:p.His2372GlnfsTer29
XM_006721922.1:c.7208dup	XP_006721985.1:p.His2403GlnfsTer29
XM_006721923.2:c.7169dup	XP_006721986.1:p.His2390GlnfsTer29
XM_006721924.1:c.7208dup	XP_006721987.1:p.His2403GlnfsTer29
XM_006721925.1:c.7145dup	XP_006721988.1:p.His2382GlnfsTer29
XM_006721926.2:c.7208dup	XP_006721989.1:p.His2403GlnfsTer29
XM_006721927.1:c.7208dup	XP_006721990.1:p.His2403GlnfsTer29
XM_011524852.1:c.7205dup	XP_011523154.1:p.His2402GlnfsTer29
XM_011524853.1:c.7169dup	XP_011523155.1:p.His2390GlnfsTer29
XM_011524854.1:c.7169dup	XP_011523156.1:p.His2390GlnfsTer29
XM_011524855.1:c.7169dup	XP_011523157.1:p.His2390GlnfsTer29
XM_011524856.1:c.7169dup	XP_011523158.1:p.His2390GlnfsTer29
XM_011524857.1:c.7208dup	XP_011523159.1:p.His2403GlnfsTer29
NM_001042492.3:c.7178dup MANE Select	NP_001035957.1:p.His2393GlnfsTer29