Canonical Allele Identifier: CA2255564744
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31229106_31229108delinsACA , CM000679.2:g.31229106_31229108delinsACA GRCh38
NC_000017.10:g.29556124_29556126delinsACA , CM000679.1:g.29556124_29556126delinsACA GRCh37
NC_000017.9:g.26580250_26580252delinsACA NCBI36
NG_009018.1:g.139130_139132delinsACA , LRG_214:g.139130_139132delinsACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.2536_2538delinsACA ENSP00000512431.1:p.Thr846=
ENST00000691014.1:c.2521_2523delinsACA ENSP00000510595.1:p.Thr841=
ENST00000358273.9:c.2491_2493delinsACA MANE Select ENSP00000351015.4:p.Thr831=
ENST00000356175.7:c.2491_2493delinsACA ENSP00000348498.3:p.Thr831=
ENST00000358273.8:c.2491_2493delinsACA ENSP00000351015.4:p.Thr831=
ENST00000456735.6:c.1489_1491delinsACA ENSP00000389907.2:p.Thr497=
ENST00000493220.5:n.658_660delinsACA
ENST00000495910.6:c.2266_2268delinsACA
ENST00000579081.5:c.2593_2595delinsACA ENSP00000462408.1:p.Thr865=
NM_000267.3:c.2491_2493delinsACA , LRG_214t1:c.2491_2493delinsACA NP_000258.1:p.Thr831=
NM_001042492.2:c.2491_2493delinsACA , LRG_214t2:c.2491_2493delinsACA NP_001035957.1:p.Thr831=
XM_005257983.1:c.2491_2493delinsACA XP_005258040.1:p.Thr831=
XM_005257984.1:c.2491_2493delinsACA XP_005258041.1:p.Thr831=
XM_006721922.1:c.2521_2523delinsACA XP_006721985.1:p.Thr841=
XM_006721923.2:c.2482_2484delinsACA XP_006721986.1:p.Thr828=
XM_006721924.1:c.2521_2523delinsACA XP_006721987.1:p.Thr841=
XM_006721925.1:c.2521_2523delinsACA XP_006721988.1:p.Thr841=
XM_006721926.2:c.2521_2523delinsACA XP_006721989.1:p.Thr841=
XM_006721927.1:c.2521_2523delinsACA XP_006721990.1:p.Thr841=
XM_006721928.2:c.2521_2523delinsACA XP_006721991.1:p.Thr841=
XM_011524852.1:c.2518_2520delinsACA XP_011523154.1:p.Thr840=
XM_011524853.1:c.2482_2484delinsACA XP_011523155.1:p.Thr828=
XM_011524854.1:c.2482_2484delinsACA XP_011523156.1:p.Thr828=
XM_011524855.1:c.2482_2484delinsACA XP_011523157.1:p.Thr828=
XM_011524856.1:c.2482_2484delinsACA XP_011523158.1:p.Thr828=
XM_011524857.1:c.2521_2523delinsACA XP_011523159.1:p.Thr841=
NM_001042492.3:c.2491_2493delinsACA MANE Select NP_001035957.1:p.Thr831=