Canonical Allele Identifier: CA658824588

Gene: NF1

Linked Data

• ClinVar Variation Id: 547683
• ClinVar RCV Id: RCV000660104
• dbSNP Id: rs1555535027
• MyVariant Identifiers: chr17:g.29665735dup (hg19) ; chr17:g.31338717dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338717dup , CM000679.2:g.31338717dup	GRCh38
NC_000017.10:g.29665735dup , CM000679.1:g.29665735dup	GRCh37
NC_000017.9:g.26689861dup	NCBI36
NG_009018.1:g.248741dup , LRG_214:g.248741dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6815dup	ENSP00000512431.1:p.Cys2272TrpfsTer6
ENST00000684826.1:c.1397dup	ENSP00000509994.1:p.Cys466TrpfsTer6
ENST00000684998.1:n.2655dup
ENST00000687027.1:c.989dup	ENSP00000508715.1:p.Cys330TrpfsTer6
ENST00000687863.1:n.3478dup
ENST00000691014.1:c.6863dup	ENSP00000510595.1:p.Cys2288TrpfsTer6
ENST00000693617.1:c.1397dup	ENSP00000510031.1:p.Cys466TrpfsTer6
ENST00000358273.9:c.6833dup MANE Select	ENSP00000351015.4:p.Cys2278TrpfsTer6
ENST00000356175.7:c.6770dup	ENSP00000348498.3:p.Cys2257TrpfsTer6
ENST00000358273.8:c.6833dup	ENSP00000351015.4:p.Cys2278TrpfsTer6
ENST00000456735.6:c.5768dup	ENSP00000389907.2:p.Cys1923TrpfsTer6
ENST00000471572.6:c.216dup
ENST00000579081.5:c.6969dup	ENSP00000462408.1:n.6969dup
ENST00000581790.5:c.64+837dup
ENST00000584328.1:n.247dup
NM_000267.3:c.6770dup , LRG_214t1:c.6770dup	NP_000258.1:p.Cys2257TrpfsTer6
NM_001042492.2:c.6833dup , LRG_214t2:c.6833dup	NP_001035957.1:p.Cys2278TrpfsTer6
XM_005257983.1:c.6833dup	XP_005258040.1:p.Cys2278TrpfsTer6
XM_005257984.1:c.6770dup	XP_005258041.1:p.Cys2257TrpfsTer6
XM_006721922.1:c.6863dup	XP_006721985.1:p.Cys2288TrpfsTer6
XM_006721923.2:c.6824dup	XP_006721986.1:p.Cys2275TrpfsTer6
XM_006721924.1:c.6863dup	XP_006721987.1:p.Cys2288TrpfsTer6
XM_006721925.1:c.6800dup	XP_006721988.1:p.Cys2267TrpfsTer6
XM_006721926.2:c.6863dup	XP_006721989.1:p.Cys2288TrpfsTer6
XM_006721927.1:c.6863dup	XP_006721990.1:p.Cys2288TrpfsTer6
XM_011524852.1:c.6860dup	XP_011523154.1:p.Cys2287TrpfsTer6
XM_011524853.1:c.6824dup	XP_011523155.1:p.Cys2275TrpfsTer6
XM_011524854.1:c.6824dup	XP_011523156.1:p.Cys2275TrpfsTer6
XM_011524855.1:c.6824dup	XP_011523157.1:p.Cys2275TrpfsTer6
XM_011524856.1:c.6824dup	XP_011523158.1:p.Cys2275TrpfsTer6
XM_011524857.1:c.6863dup	XP_011523159.1:p.Cys2288TrpfsTer6
NM_001042492.3:c.6833dup MANE Select	NP_001035957.1:p.Cys2278TrpfsTer6