Canonical Allele Identifier: CA658656567

Gene: NF1

Linked Data

• ClinVar Variation Id: 457880
• ClinVar RCV Id: RCV000530605 ; RCV001811033 ; RCV002377020
• dbSNP Id: rs1555610893
• MyVariant Identifiers: chr17:g.29527534_29527535del (hg19) ; chr17:g.31200516_31200517del (hg38)
• PubMed: PMID:9195229

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31200516_31200517del , CM000679.2:g.31200516_31200517del	GRCh38
NC_000017.10:g.29527534_29527535del , CM000679.1:g.29527534_29527535del	GRCh37
NC_000017.9:g.26551660_26551661del	NCBI36
NG_009018.1:g.110540_110541del , LRG_214:g.110540_110541del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.983_984del	ENSP00000512431.1:p.Cys328Ter
ENST00000686189.1:c.398_399del	ENSP00000509682.1:p.Cys133Ter
ENST00000688507.1:n.689_690del
ENST00000691014.1:c.983_984del	ENSP00000510595.1:p.Cys328Ter
ENST00000692326.1:n.825_826del
ENST00000358273.9:c.983_984del MANE Select	ENSP00000351015.4:p.Cys328Ter
ENST00000356175.7:c.983_984del	ENSP00000348498.3:p.Cys328Ter
ENST00000358273.8:c.983_984del	ENSP00000351015.4:p.Cys328Ter
ENST00000431387.8:c.983_984del	ENSP00000412921.4:p.Cys328Ter
ENST00000487476.5:n.1366_1367del
ENST00000495910.6:c.758_759del
ENST00000579081.5:c.1085_1086del	ENSP00000462408.1:p.Cys362Ter
NM_000267.3:c.983_984del , LRG_214t1:c.983_984del	NP_000258.1:p.Cys328Ter
NM_001042492.2:c.983_984del , LRG_214t2:c.983_984del	NP_001035957.1:p.Cys328Ter
NM_001128147.2:c.983_984del	NP_001121619.1:p.Cys328Ter
XM_005257983.1:c.983_984del	XP_005258040.1:p.Cys328Ter
XM_005257984.1:c.983_984del	XP_005258041.1:p.Cys328Ter
XM_006721922.1:c.983_984del	XP_006721985.1:p.Cys328Ter
XM_006721923.2:c.944_945del	XP_006721986.1:p.Cys315Ter
XM_006721924.1:c.983_984del	XP_006721987.1:p.Cys328Ter
XM_006721925.1:c.983_984del	XP_006721988.1:p.Cys328Ter
XM_006721926.2:c.983_984del	XP_006721989.1:p.Cys328Ter
XM_006721927.1:c.983_984del	XP_006721990.1:p.Cys328Ter
XM_006721928.2:c.983_984del	XP_006721991.1:p.Cys328Ter
XM_011524852.1:c.983_984del	XP_011523154.1:p.Cys328Ter
XM_011524853.1:c.944_945del	XP_011523155.1:p.Cys315Ter
XM_011524854.1:c.944_945del	XP_011523156.1:p.Cys315Ter
XM_011524855.1:c.944_945del	XP_011523157.1:p.Cys315Ter
XM_011524856.1:c.944_945del	XP_011523158.1:p.Cys315Ter
XM_011524857.1:c.983_984del	XP_011523159.1:p.Cys328Ter
NM_001042492.3:c.983_984del MANE Select	NP_001035957.1:p.Cys328Ter
NM_001128147.3:c.983_984del	NP_001121619.1:p.Cys328Ter