Canonical Allele Identifier: CA658825053

Gene: NF1

Linked Data

• ClinVar Variation Id: 547590
• ClinVar RCV Id: RCV000659987
• dbSNP Id: rs1555612273

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31214471_31214472delinsT , CM000679.2:g.31214471_31214472delinsT	GRCh38
NC_000017.10:g.29541489_29541490delinsT , CM000679.1:g.29541489_29541490delinsT	GRCh37
NC_000017.9:g.26565615_26565616delinsT	NCBI36
NG_009018.1:g.124495_124496delinsT , LRG_214:g.124495_124496delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1458_1459delinsT	ENSP00000512431.1:p.Lys486AsnfsTer2
ENST00000686189.1:c.858_859delinsT	ENSP00000509682.1:p.Lys286AsnfsTer2
ENST00000691014.1:c.1443_1444delinsT	ENSP00000510595.1:p.Lys481AsnfsTer2
ENST00000358273.9:c.1413_1414delinsT MANE Select	ENSP00000351015.4:p.Lys471AsnfsTer2
ENST00000356175.7:c.1413_1414delinsT	ENSP00000348498.3:p.Lys471AsnfsTer2
ENST00000358273.8:c.1413_1414delinsT	ENSP00000351015.4:p.Lys471AsnfsTer2
ENST00000431387.8:c.1413_1414delinsT	ENSP00000412921.4:p.Lys471AsnfsTer2
ENST00000456735.6:c.411_412delinsT	ENSP00000389907.2:p.Lys137AsnfsTer2
ENST00000487476.5:n.1796_1797delinsT
ENST00000495910.6:c.1188_1189delinsT
ENST00000579081.5:c.1515_1516delinsT	ENSP00000462408.1:p.Lys505AsnfsTer2
NM_000267.3:c.1413_1414delinsT , LRG_214t1:c.1413_1414delinsT	NP_000258.1:p.Lys471AsnfsTer2
NM_001042492.2:c.1413_1414delinsT , LRG_214t2:c.1413_1414delinsT	NP_001035957.1:p.Lys471AsnfsTer2
NM_001128147.2:c.1413_1414delinsT	NP_001121619.1:p.Lys471AsnfsTer2
XM_005257983.1:c.1413_1414delinsT	XP_005258040.1:p.Lys471AsnfsTer2
XM_005257984.1:c.1413_1414delinsT	XP_005258041.1:p.Lys471AsnfsTer2
XM_006721922.1:c.1443_1444delinsT	XP_006721985.1:p.Lys481AsnfsTer2
XM_006721923.2:c.1404_1405delinsT	XP_006721986.1:p.Lys468AsnfsTer2
XM_006721924.1:c.1443_1444delinsT	XP_006721987.1:p.Lys481AsnfsTer2
XM_006721925.1:c.1443_1444delinsT	XP_006721988.1:p.Lys481AsnfsTer2
XM_006721926.2:c.1443_1444delinsT	XP_006721989.1:p.Lys481AsnfsTer2
XM_006721927.1:c.1443_1444delinsT	XP_006721990.1:p.Lys481AsnfsTer2
XM_006721928.2:c.1443_1444delinsT	XP_006721991.1:p.Lys481AsnfsTer2
XM_011524852.1:c.1443_1444delinsT	XP_011523154.1:p.Lys481AsnfsTer2
XM_011524853.1:c.1404_1405delinsT	XP_011523155.1:p.Lys468AsnfsTer2
XM_011524854.1:c.1404_1405delinsT	XP_011523156.1:p.Lys468AsnfsTer2
XM_011524855.1:c.1404_1405delinsT	XP_011523157.1:p.Lys468AsnfsTer2
XM_011524856.1:c.1404_1405delinsT	XP_011523158.1:p.Lys468AsnfsTer2
XM_011524857.1:c.1443_1444delinsT	XP_011523159.1:p.Lys481AsnfsTer2
NM_001042492.3:c.1413_1414delinsT MANE Select	NP_001035957.1:p.Lys471AsnfsTer2
NM_001128147.3:c.1413_1414delinsT	NP_001121619.1:p.Lys471AsnfsTer2