Canonical Allele Identifier: CA2255578962

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265271_31265279delinsGTTAAGTAT , CM000679.2:g.31265271_31265279delinsGTTAAGTAT	GRCh38
NC_000017.10:g.29592289_29592297delinsGTTAAGTAT , CM000679.1:g.29592289_29592297delinsGTTAAGTAT	GRCh37
NC_000017.9:g.26616415_26616423delinsGTTAAGTAT	NCBI36
NG_009018.1:g.175295_175303delinsGTTAAGTAT , LRG_214:g.175295_175303delinsGTTAAGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.569_577delinsGTTAAGTAT	ENSP00000492721.2:n.569_577delinsGTTAAGTAT
ENST00000696138.1:c.4749_4757delinsGTTAAGTAT	ENSP00000512431.1:p.Thr1583=
ENST00000696140.1:n.873_881delinsGTTAAGTAT
ENST00000696141.1:c.758_766delinsGTTAAGTAT
ENST00000687863.1:n.1412_1420delinsGTTAAGTAT
ENST00000691014.1:c.4797_4805delinsGTTAAGTAT	ENSP00000510595.1:p.Thr1599=
ENST00000358273.9:c.4767_4775delinsGTTAAGTAT MANE Select	ENSP00000351015.4:p.Thr1589=
ENST00000356175.7:c.4704_4712delinsGTTAAGTAT	ENSP00000348498.3:p.Thr1568=
ENST00000358273.8:c.4767_4775delinsGTTAAGTAT	ENSP00000351015.4:p.Thr1589=
ENST00000456735.6:c.3702_3710delinsGTTAAGTAT	ENSP00000389907.2:p.Thr1234=
ENST00000493220.5:n.3240_3248delinsGTTAAGTAT
ENST00000579081.5:c.4806_4814delinsGTTAAGTAT	ENSP00000462408.1:p.Thr1602=
NM_000267.3:c.4704_4712delinsGTTAAGTAT , LRG_214t1:c.4704_4712delinsGTTAAGTAT	NP_000258.1:p.Thr1568=
NM_001042492.2:c.4767_4775delinsGTTAAGTAT , LRG_214t2:c.4767_4775delinsGTTAAGTAT	NP_001035957.1:p.Thr1589=
XM_005257983.1:c.4767_4775delinsGTTAAGTAT	XP_005258040.1:p.Thr1589=
XM_005257984.1:c.4704_4712delinsGTTAAGTAT	XP_005258041.1:p.Thr1568=
XM_006721922.1:c.4797_4805delinsGTTAAGTAT	XP_006721985.1:p.Thr1599=
XM_006721923.2:c.4758_4766delinsGTTAAGTAT	XP_006721986.1:p.Thr1586=
XM_006721924.1:c.4797_4805delinsGTTAAGTAT	XP_006721987.1:p.Thr1599=
XM_006721925.1:c.4734_4742delinsGTTAAGTAT	XP_006721988.1:p.Thr1578=
XM_006721926.2:c.4797_4805delinsGTTAAGTAT	XP_006721989.1:p.Thr1599=
XM_006721927.1:c.4797_4805delinsGTTAAGTAT	XP_006721990.1:p.Thr1599=
XM_006721928.2:c.4797_4805delinsGTTAAGTAT	XP_006721991.1:p.Thr1599=
XM_011524852.1:c.4794_4802delinsGTTAAGTAT	XP_011523154.1:p.Thr1598=
XM_011524853.1:c.4758_4766delinsGTTAAGTAT	XP_011523155.1:p.Thr1586=
XM_011524854.1:c.4758_4766delinsGTTAAGTAT	XP_011523156.1:p.Thr1586=
XM_011524855.1:c.4758_4766delinsGTTAAGTAT	XP_011523157.1:p.Thr1586=
XM_011524856.1:c.4758_4766delinsGTTAAGTAT	XP_011523158.1:p.Thr1586=
XM_011524857.1:c.4797_4805delinsGTTAAGTAT	XP_011523159.1:p.Thr1599=
NM_001042492.3:c.4767_4775delinsGTTAAGTAT MANE Select	NP_001035957.1:p.Thr1589=