Canonical Allele Identifier: CA2255605060

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343020_31343047delinsAGTATTTATGGCAATCCGGAATCCTCTG , CM000679.2:g.31343020_31343047delinsAGTATTTATGGCAATCCGGAATCCTCTG	GRCh38
NC_000017.10:g.29670038_29670065delinsAGTATTTATGGCAATCCGGAATCCTCTG , CM000679.1:g.29670038_29670065delinsAGTATTTATGGCAATCCGGAATCCTCTG	GRCh37
NC_000017.9:g.26694164_26694191delinsAGTATTTATGGCAATCCGGAATCCTCTG	NCBI36
NG_009018.1:g.253044_253071delinsAGTATTTATGGCAATCCGGAATCCTCTG , LRG_214:g.253044_253071delinsAGTATTTATGGCAATCCGGAATCCTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7056_7083delinsAGTATTTATGGCAATCCGGAATCCTCTG	ENSP00000512431.1:p.Glu2352=
ENST00000684826.1:c.1638_1665delinsAGTATTTATGGCAATCCGGAATCCTCTG	ENSP00000509994.1:p.Glu546=
ENST00000687027.1:c.1230_1257delinsAGTATTTATGGCAATCCGGAATCCTCTG	ENSP00000508715.1:p.Glu410=
ENST00000687863.1:n.3719_3746delinsAGTATTTATGGCAATCCGGAATCCTCTG
ENST00000689464.1:c.13_40delinsAGTATTTATGGCAATCCGGAATCCTCTG
ENST00000691014.1:c.7104_7131delinsAGTATTTATGGCAATCCGGAATCCTCTG	ENSP00000510595.1:p.Glu2368=
ENST00000693617.1:c.1638_1665delinsAGTATTTATGGCAATCCGGAATCCTCTG	ENSP00000510031.1:p.Glu546=
ENST00000358273.9:c.7074_7101delinsAGTATTTATGGCAATCCGGAATCCTCTG MANE Select	ENSP00000351015.4:p.Glu2358=
ENST00000356175.7:c.7011_7038delinsAGTATTTATGGCAATCCGGAATCCTCTG	ENSP00000348498.3:p.Glu2337=
ENST00000358273.8:c.7074_7101delinsAGTATTTATGGCAATCCGGAATCCTCTG	ENSP00000351015.4:p.Glu2358=
ENST00000456735.6:c.6009_6036delinsAGTATTTATGGCAATCCGGAATCCTCTG	ENSP00000389907.2:p.Glu2003=
ENST00000471572.6:c.457_484delinsAGTATTTATGGCAATCCGGAATCCTCTG
ENST00000579081.5:c.7210_7237delinsAGTATTTATGGCAATCCGGAATCCTCTG	ENSP00000462408.1:n.7210_7237delinsAGTATTTATGGCAATCCGGAATCCTC...
ENST00000581790.5:c.217_244delinsAGTATTTATGGCAATCCGGAATCCTCTG
ENST00000582892.1:n.316_343delinsAGTATTTATGGCAATCCGGAATCCTCTG
ENST00000584328.1:n.488_515delinsAGTATTTATGGCAATCCGGAATCCTCTG
NM_000267.3:c.7011_7038delinsAGTATTTATGGCAATCCGGAATCCTCTG , LRG_214t1:c.7011_7038delinsAGTATTTATGGCAATCCGGAATCCTCTG	NP_000258.1:p.Glu2337=
NM_001042492.2:c.7074_7101delinsAGTATTTATGGCAATCCGGAATCCTCTG , LRG_214t2:c.7074_7101delinsAGTATTTATGGCAATCCGGAATCCTCTG	NP_001035957.1:p.Glu2358=
XM_005257983.1:c.7074_7101delinsAGTATTTATGGCAATCCGGAATCCTCTG	XP_005258040.1:p.Glu2358=
XM_005257984.1:c.7011_7038delinsAGTATTTATGGCAATCCGGAATCCTCTG	XP_005258041.1:p.Glu2337=
XM_006721922.1:c.7104_7131delinsAGTATTTATGGCAATCCGGAATCCTCTG	XP_006721985.1:p.Glu2368=
XM_006721923.2:c.7065_7092delinsAGTATTTATGGCAATCCGGAATCCTCTG	XP_006721986.1:p.Glu2355=
XM_006721924.1:c.7104_7131delinsAGTATTTATGGCAATCCGGAATCCTCTG	XP_006721987.1:p.Glu2368=
XM_006721925.1:c.7041_7068delinsAGTATTTATGGCAATCCGGAATCCTCTG	XP_006721988.1:p.Glu2347=
XM_006721926.2:c.7104_7131delinsAGTATTTATGGCAATCCGGAATCCTCTG	XP_006721989.1:p.Glu2368=
XM_006721927.1:c.7104_7131delinsAGTATTTATGGCAATCCGGAATCCTCTG	XP_006721990.1:p.Glu2368=
XM_011524852.1:c.7101_7128delinsAGTATTTATGGCAATCCGGAATCCTCTG	XP_011523154.1:p.Glu2367=
XM_011524853.1:c.7065_7092delinsAGTATTTATGGCAATCCGGAATCCTCTG	XP_011523155.1:p.Glu2355=
XM_011524854.1:c.7065_7092delinsAGTATTTATGGCAATCCGGAATCCTCTG	XP_011523156.1:p.Glu2355=
XM_011524855.1:c.7065_7092delinsAGTATTTATGGCAATCCGGAATCCTCTG	XP_011523157.1:p.Glu2355=
XM_011524856.1:c.7065_7092delinsAGTATTTATGGCAATCCGGAATCCTCTG	XP_011523158.1:p.Glu2355=
XM_011524857.1:c.7104_7131delinsAGTATTTATGGCAATCCGGAATCCTCTG	XP_011523159.1:p.Glu2368=
NM_001042492.3:c.7074_7101delinsAGTATTTATGGCAATCCGGAATCCTCTG MANE Select	NP_001035957.1:p.Glu2358=