Canonical Allele Identifier: CA645373093

Gene: NF1

Linked Data

• ClinVar Variation Id: 431657
• ClinVar RCV Id: RCV000497089
• dbSNP Id: rs1135402873
• MyVariant Identifiers: chr17:g.29654794_29654801del (hg19) ; chr17:g.31327776_31327783del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31327776_31327783del , CM000679.2:g.31327776_31327783del	GRCh38
NC_000017.10:g.29654794_29654801del , CM000679.1:g.29654794_29654801del	GRCh37
NC_000017.9:g.26678920_26678927del	NCBI36
NG_009018.1:g.237800_237807del , LRG_214:g.237800_237807del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1734_1741del	ENSP00000492721.2:n.1734_1741del
ENST00000696138.1:c.5528_5535del	ENSP00000512431.1:p.Asp1843GlyfsTer10
ENST00000684826.1:c.110_117del	ENSP00000509994.1:p.Asp37GlyfsTer10
ENST00000687027.1:c.-236+1524_-236+1531del	ENSP00000508715.1:n.-236+1524_-236+1531del
ENST00000687863.1:n.2191_2198del
ENST00000691014.1:c.5576_5583del	ENSP00000510595.1:p.Asp1859GlyfsTer10
ENST00000693617.1:c.110_117del	ENSP00000510031.1:p.Asp37GlyfsTer10
ENST00000358273.9:c.5546_5553del MANE Select	ENSP00000351015.4:p.Asp1849GlyfsTer10
ENST00000356175.7:c.5483_5490del	ENSP00000348498.3:p.Asp1828GlyfsTer10
ENST00000358273.8:c.5546_5553del	ENSP00000351015.4:p.Asp1849GlyfsTer10
ENST00000456735.6:c.4481_4488del	ENSP00000389907.2:p.Asp1494GlyfsTer10
ENST00000493220.5:n.4019_4026del
ENST00000579081.5:c.5682_5689del	ENSP00000462408.1:n.5682_5689del
ENST00000581113.6:n.863_870del
NM_000267.3:c.5483_5490del , LRG_214t1:c.5483_5490del	NP_000258.1:p.Asp1828GlyfsTer10
NM_001042492.2:c.5546_5553del , LRG_214t2:c.5546_5553del	NP_001035957.1:p.Asp1849GlyfsTer10
XM_005257983.1:c.5546_5553del	XP_005258040.1:p.Asp1849GlyfsTer10
XM_005257984.1:c.5483_5490del	XP_005258041.1:p.Asp1828GlyfsTer10
XM_006721922.1:c.5576_5583del	XP_006721985.1:p.Asp1859GlyfsTer10
XM_006721923.2:c.5537_5544del	XP_006721986.1:p.Asp1846GlyfsTer10
XM_006721924.1:c.5576_5583del	XP_006721987.1:p.Asp1859GlyfsTer10
XM_006721925.1:c.5513_5520del	XP_006721988.1:p.Asp1838GlyfsTer10
XM_006721926.2:c.5576_5583del	XP_006721989.1:p.Asp1859GlyfsTer10
XM_006721927.1:c.5576_5583del	XP_006721990.1:p.Asp1859GlyfsTer10
XM_011524852.1:c.5573_5580del	XP_011523154.1:p.Asp1858GlyfsTer10
XM_011524853.1:c.5537_5544del	XP_011523155.1:p.Asp1846GlyfsTer10
XM_011524854.1:c.5537_5544del	XP_011523156.1:p.Asp1846GlyfsTer10
XM_011524855.1:c.5537_5544del	XP_011523157.1:p.Asp1846GlyfsTer10
XM_011524856.1:c.5537_5544del	XP_011523158.1:p.Asp1846GlyfsTer10
XM_011524857.1:c.5576_5583del	XP_011523159.1:p.Asp1859GlyfsTer10
NM_001042492.3:c.5546_5553del MANE Select	NP_001035957.1:p.Asp1849GlyfsTer10