Canonical Allele Identifier: CA2580614053

Gene: NF1

Linked Data

• ClinVar Variation Id: 1452028
• ClinVar RCV Id: RCV002007508
• dbSNP Id: rs2143959428

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31214513_31214514del , CM000679.2:g.31214513_31214514del	GRCh38
NC_000017.10:g.29541531_29541532del , CM000679.1:g.29541531_29541532del	GRCh37
NC_000017.9:g.26565657_26565658del	NCBI36
NG_009018.1:g.124537_124538del , LRG_214:g.124537_124538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1500_1501del	ENSP00000512431.1:p.Glu500AspfsTer5
ENST00000686189.1:c.900_901del	ENSP00000509682.1:p.Glu300AspfsTer5
ENST00000691014.1:c.1485_1486del	ENSP00000510595.1:p.Glu495AspfsTer5
ENST00000358273.9:c.1455_1456del MANE Select	ENSP00000351015.4:p.Glu485AspfsTer5
ENST00000356175.7:c.1455_1456del	ENSP00000348498.3:p.Glu485AspfsTer5
ENST00000358273.8:c.1455_1456del	ENSP00000351015.4:p.Glu485AspfsTer5
ENST00000431387.8:c.1455_1456del	ENSP00000412921.4:p.Glu485AspfsTer5
ENST00000456735.6:c.453_454del	ENSP00000389907.2:p.Glu151AspfsTer5
ENST00000487476.5:n.1838_1839del
ENST00000495910.6:c.1230_1231del
ENST00000579081.5:c.1557_1558del	ENSP00000462408.1:p.Glu519AspfsTer5
NM_000267.3:c.1455_1456del , LRG_214t1:c.1455_1456del	NP_000258.1:p.Glu485AspfsTer5
NM_001042492.2:c.1455_1456del , LRG_214t2:c.1455_1456del	NP_001035957.1:p.Glu485AspfsTer5
NM_001128147.2:c.1455_1456del	NP_001121619.1:p.Glu485AspfsTer5
XM_005257983.1:c.1455_1456del	XP_005258040.1:p.Glu485AspfsTer5
XM_005257984.1:c.1455_1456del	XP_005258041.1:p.Glu485AspfsTer5
XM_006721922.1:c.1485_1486del	XP_006721985.1:p.Glu495AspfsTer5
XM_006721923.2:c.1446_1447del	XP_006721986.1:p.Glu482AspfsTer5
XM_006721924.1:c.1485_1486del	XP_006721987.1:p.Glu495AspfsTer5
XM_006721925.1:c.1485_1486del	XP_006721988.1:p.Glu495AspfsTer5
XM_006721926.2:c.1485_1486del	XP_006721989.1:p.Glu495AspfsTer5
XM_006721927.1:c.1485_1486del	XP_006721990.1:p.Glu495AspfsTer5
XM_006721928.2:c.1485_1486del	XP_006721991.1:p.Glu495AspfsTer5
XM_011524852.1:c.1485_1486del	XP_011523154.1:p.Glu495AspfsTer5
XM_011524853.1:c.1446_1447del	XP_011523155.1:p.Glu482AspfsTer5
XM_011524854.1:c.1446_1447del	XP_011523156.1:p.Glu482AspfsTer5
XM_011524855.1:c.1446_1447del	XP_011523157.1:p.Glu482AspfsTer5
XM_011524856.1:c.1446_1447del	XP_011523158.1:p.Glu482AspfsTer5
XM_011524857.1:c.1485_1486del	XP_011523159.1:p.Glu495AspfsTer5
NM_001042492.3:c.1455_1456del MANE Select	NP_001035957.1:p.Glu485AspfsTer5
NM_001128147.3:c.1455_1456del	NP_001121619.1:p.Glu485AspfsTer5