Canonical Allele Identifier: CA2255577420

Gene: NF1

Linked Data

• ClinVar Variation Id: 996425
• ClinVar RCV Id: RCV001290833
• dbSNP Id: rs2067690686

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261772_31261773del , CM000679.2:g.31261772_31261773del	GRCh38
NC_000017.10:g.29588790_29588791del , CM000679.1:g.29588790_29588791del	GRCh37
NC_000017.9:g.26612916_26612917del	NCBI36
NG_009018.1:g.171796_171797del , LRG_214:g.171796_171797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.441_442del	ENSP00000492721.2:p.Trp147CysfsTer?
ENST00000696138.1:c.4621_4622del	ENSP00000512431.1:p.Gly1541SerfsTer16
ENST00000696140.1:n.745_746del
ENST00000696141.1:c.630_631del
ENST00000687863.1:n.1284_1285del
ENST00000691014.1:c.4669_4670del	ENSP00000510595.1:p.Gly1557SerfsTer16
ENST00000358273.9:c.4639_4640del MANE Select	ENSP00000351015.4:p.Gly1547SerfsTer16
ENST00000356175.7:c.4576_4577del	ENSP00000348498.3:p.Gly1526SerfsTer16
ENST00000358273.8:c.4639_4640del	ENSP00000351015.4:p.Gly1547SerfsTer16
ENST00000456735.6:c.3574_3575del	ENSP00000389907.2:p.Gly1192SerfsTer16
ENST00000466819.5:c.1155_1156del
ENST00000479614.1:c.1092_1093del
ENST00000493220.5:n.3112_3113del
ENST00000579081.5:c.4678_4679del	ENSP00000462408.1:p.Gly1560SerfsTer16
NM_000267.3:c.4576_4577del , LRG_214t1:c.4576_4577del	NP_000258.1:p.Gly1526SerfsTer16
NM_001042492.2:c.4639_4640del , LRG_214t2:c.4639_4640del	NP_001035957.1:p.Gly1547SerfsTer16
XM_005257983.1:c.4639_4640del	XP_005258040.1:p.Gly1547SerfsTer16
XM_005257984.1:c.4576_4577del	XP_005258041.1:p.Gly1526SerfsTer16
XM_006721922.1:c.4669_4670del	XP_006721985.1:p.Gly1557SerfsTer16
XM_006721923.2:c.4630_4631del	XP_006721986.1:p.Gly1544SerfsTer16
XM_006721924.1:c.4669_4670del	XP_006721987.1:p.Gly1557SerfsTer16
XM_006721925.1:c.4606_4607del	XP_006721988.1:p.Gly1536SerfsTer16
XM_006721926.2:c.4669_4670del	XP_006721989.1:p.Gly1557SerfsTer16
XM_006721927.1:c.4669_4670del	XP_006721990.1:p.Gly1557SerfsTer16
XM_006721928.2:c.4669_4670del	XP_006721991.1:p.Gly1557SerfsTer16
XM_011524852.1:c.4666_4667del	XP_011523154.1:p.Gly1556SerfsTer16
XM_011524853.1:c.4630_4631del	XP_011523155.1:p.Gly1544SerfsTer16
XM_011524854.1:c.4630_4631del	XP_011523156.1:p.Gly1544SerfsTer16
XM_011524855.1:c.4630_4631del	XP_011523157.1:p.Gly1544SerfsTer16
XM_011524856.1:c.4630_4631del	XP_011523158.1:p.Gly1544SerfsTer16
XM_011524857.1:c.4669_4670del	XP_011523159.1:p.Gly1557SerfsTer16
NM_001042492.3:c.4639_4640del MANE Select	NP_001035957.1:p.Gly1547SerfsTer16