Canonical Allele Identifier: CA2255577394

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261730_31261731delinsAG , CM000679.2:g.31261730_31261731delinsAG	GRCh38
NC_000017.10:g.29588748_29588749delinsAG , CM000679.1:g.29588748_29588749delinsAG	GRCh37
NC_000017.9:g.26612874_26612875delinsAG	NCBI36
NG_009018.1:g.171754_171755delinsAG , LRG_214:g.171754_171755delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.399_400delinsAG	ENSP00000492721.2:p.Glu133=
ENST00000696138.1:c.4579_4580delinsAG	ENSP00000512431.1:p.Arg1527=
ENST00000696140.1:n.703_704delinsAG
ENST00000696141.1:c.588_589delinsAG
ENST00000687863.1:n.1242_1243delinsAG
ENST00000691014.1:c.4627_4628delinsAG	ENSP00000510595.1:p.Arg1543=
ENST00000358273.9:c.4597_4598delinsAG MANE Select	ENSP00000351015.4:p.Arg1533=
ENST00000356175.7:c.4534_4535delinsAG	ENSP00000348498.3:p.Arg1512=
ENST00000358273.8:c.4597_4598delinsAG	ENSP00000351015.4:p.Arg1533=
ENST00000456735.6:c.3532_3533delinsAG	ENSP00000389907.2:p.Arg1178=
ENST00000466819.5:c.1113_1114delinsAG
ENST00000479614.1:c.1050_1051delinsAG
ENST00000493220.5:n.3070_3071delinsAG
ENST00000579081.5:c.4636_4637delinsAG	ENSP00000462408.1:p.Arg1546=
NM_000267.3:c.4534_4535delinsAG , LRG_214t1:c.4534_4535delinsAG	NP_000258.1:p.Arg1512=
NM_001042492.2:c.4597_4598delinsAG , LRG_214t2:c.4597_4598delinsAG	NP_001035957.1:p.Arg1533=
XM_005257983.1:c.4597_4598delinsAG	XP_005258040.1:p.Arg1533=
XM_005257984.1:c.4534_4535delinsAG	XP_005258041.1:p.Arg1512=
XM_006721922.1:c.4627_4628delinsAG	XP_006721985.1:p.Arg1543=
XM_006721923.2:c.4588_4589delinsAG	XP_006721986.1:p.Arg1530=
XM_006721924.1:c.4627_4628delinsAG	XP_006721987.1:p.Arg1543=
XM_006721925.1:c.4564_4565delinsAG	XP_006721988.1:p.Arg1522=
XM_006721926.2:c.4627_4628delinsAG	XP_006721989.1:p.Arg1543=
XM_006721927.1:c.4627_4628delinsAG	XP_006721990.1:p.Arg1543=
XM_006721928.2:c.4627_4628delinsAG	XP_006721991.1:p.Arg1543=
XM_011524852.1:c.4624_4625delinsAG	XP_011523154.1:p.Arg1542=
XM_011524853.1:c.4588_4589delinsAG	XP_011523155.1:p.Arg1530=
XM_011524854.1:c.4588_4589delinsAG	XP_011523156.1:p.Arg1530=
XM_011524855.1:c.4588_4589delinsAG	XP_011523157.1:p.Arg1530=
XM_011524856.1:c.4588_4589delinsAG	XP_011523158.1:p.Arg1530=
XM_011524857.1:c.4627_4628delinsAG	XP_011523159.1:p.Arg1543=
NM_001042492.3:c.4597_4598delinsAG MANE Select	NP_001035957.1:p.Arg1533=