Canonical Allele Identifier: CA645578921

Gene: NF1

Linked Data

• COSMIC: COSM3738538

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233143_31233205delinsA , CM000679.2:g.31233143_31233205delinsA	GRCh38
NC_000017.10:g.29560161_29560223delinsA , CM000679.1:g.29560161_29560223delinsA	GRCh37
NC_000017.9:g.26584287_26584349delinsA	NCBI36
NG_009018.1:g.143167_143229delinsA , LRG_214:g.143167_143229delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3683_3745delinsA	ENSP00000512431.1:p.Thr1228AsnfsTer5
ENST00000696139.1:c.983_1045delinsA	ENSP00000512432.1:p.Thr328AsnfsTer5
ENST00000691014.1:c.3668_3730delinsA	ENSP00000510595.1:p.Thr1223AsnfsTer5
ENST00000693210.1:n.364_426delinsA
ENST00000358273.9:c.3638_3700delinsA MANE Select	ENSP00000351015.4:p.Thr1213AsnfsTer5
ENST00000356175.7:c.3638_3700delinsA	ENSP00000348498.3:p.Thr1213AsnfsTer5
ENST00000358273.8:c.3638_3700delinsA	ENSP00000351015.4:p.Thr1213AsnfsTer5
ENST00000456735.6:c.2636_2698delinsA	ENSP00000389907.2:p.Thr879AsnfsTer5
ENST00000466819.5:c.114_176delinsA
ENST00000479614.1:c.114_176delinsA
ENST00000493220.5:n.2174_2236delinsA
ENST00000495910.6:c.3413_3475delinsA
ENST00000579081.5:c.3740_3802delinsA	ENSP00000462408.1:p.Thr1247AsnfsTer5
NM_000267.3:c.3638_3700delinsA , LRG_214t1:c.3638_3700delinsA	NP_000258.1:p.Thr1213AsnfsTer5
NM_001042492.2:c.3638_3700delinsA , LRG_214t2:c.3638_3700delinsA	NP_001035957.1:p.Thr1213AsnfsTer5
XM_005257983.1:c.3638_3700delinsA	XP_005258040.1:p.Thr1213AsnfsTer5
XM_005257984.1:c.3638_3700delinsA	XP_005258041.1:p.Thr1213AsnfsTer5
XM_006721922.1:c.3668_3730delinsA	XP_006721985.1:p.Thr1223AsnfsTer5
XM_006721923.2:c.3629_3691delinsA	XP_006721986.1:p.Thr1210AsnfsTer5
XM_006721924.1:c.3668_3730delinsA	XP_006721987.1:p.Thr1223AsnfsTer5
XM_006721925.1:c.3668_3730delinsA	XP_006721988.1:p.Thr1223AsnfsTer5
XM_006721926.2:c.3668_3730delinsA	XP_006721989.1:p.Thr1223AsnfsTer5
XM_006721927.1:c.3668_3730delinsA	XP_006721990.1:p.Thr1223AsnfsTer5
XM_006721928.2:c.3668_3730delinsA	XP_006721991.1:p.Thr1223AsnfsTer5
XM_011524852.1:c.3665_3727delinsA	XP_011523154.1:p.Thr1222AsnfsTer5
XM_011524853.1:c.3629_3691delinsA	XP_011523155.1:p.Thr1210AsnfsTer5
XM_011524854.1:c.3629_3691delinsA	XP_011523156.1:p.Thr1210AsnfsTer5
XM_011524855.1:c.3629_3691delinsA	XP_011523157.1:p.Thr1210AsnfsTer5
XM_011524856.1:c.3629_3691delinsA	XP_011523158.1:p.Thr1210AsnfsTer5
XM_011524857.1:c.3668_3730delinsA	XP_011523159.1:p.Thr1223AsnfsTer5
NM_001042492.3:c.3638_3700delinsA MANE Select	NP_001035957.1:p.Thr1213AsnfsTer5