Canonical Allele Identifier: CA1139665392

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330419_31330420delinsAC , CM000679.2:g.31330419_31330420delinsAC	GRCh38
NC_000017.10:g.29657437_29657438delinsAC , CM000679.1:g.29657437_29657438delinsAC	GRCh37
NC_000017.9:g.26681563_26681564delinsAC	NCBI36
NG_009018.1:g.240443_240444delinsAC , LRG_214:g.240443_240444delinsAC

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.5733_5734delinsAC MANE Select	NP_001035957.1:p.Ser1912Arg
ENST00000358273.9:c.5733_5734delinsAC MANE Select	ENSP00000351015.4:p.Ser1912Arg
NM_000267.3:c.5670_5671delinsAC , LRG_214t1:c.5670_5671delinsAC	NP_000258.1:p.Ser1891Arg
NM_001042492.2:c.5733_5734delinsAC , LRG_214t2:c.5733_5734delinsAC	NP_001035957.1:p.Ser1912Arg
ENST00000356175.7:c.5670_5671delinsAC	ENSP00000348498.3:p.Ser1891Arg
ENST00000358273.8:c.5733_5734delinsAC	ENSP00000351015.4:p.Ser1912Arg
ENST00000456735.6:c.4668_4669delinsAC	ENSP00000389907.2:p.Ser1557Arg
ENST00000479536.2:c.91_92delinsAC
ENST00000493220.5:n.4206_4207delinsAC
ENST00000579081.5:c.5869_5870delinsAC	ENSP00000462408.1:n.5869_5870delinsAC
ENST00000581113.6:n.1050_1051delinsAC
ENST00000581113.7:c.1921_1922delinsAC	ENSP00000492721.2:n.1921_1922delinsAC
ENST00000684826.1:c.297_298delinsAC	ENSP00000509994.1:p.Ser100Arg
ENST00000687027.1:c.-112_-111delinsAC	ENSP00000508715.1:n.-112_-111delinsAC
ENST00000687863.1:n.2378_2379delinsAC
ENST00000691014.1:c.5763_5764delinsAC	ENSP00000510595.1:p.Ser1922Arg
ENST00000693617.1:c.297_298delinsAC	ENSP00000510031.1:p.Ser100Arg
ENST00000696138.1:c.5715_5716delinsAC	ENSP00000512431.1:p.Ser1906Arg
XM_005257983.1:c.5733_5734delinsAC	XP_005258040.1:p.Ser1912Arg
XM_005257984.1:c.5670_5671delinsAC	XP_005258041.1:p.Ser1891Arg
XM_006721922.1:c.5763_5764delinsAC	XP_006721985.1:p.Ser1922Arg
XM_006721923.2:c.5724_5725delinsAC	XP_006721986.1:p.Ser1909Arg
XM_006721924.1:c.5763_5764delinsAC	XP_006721987.1:p.Ser1922Arg
XM_006721925.1:c.5700_5701delinsAC	XP_006721988.1:p.Ser1901Arg
XM_006721926.2:c.5763_5764delinsAC	XP_006721989.1:p.Ser1922Arg
XM_006721927.1:c.5763_5764delinsAC	XP_006721990.1:p.Ser1922Arg
XM_011524852.1:c.5760_5761delinsAC	XP_011523154.1:p.Ser1921Arg
XM_011524853.1:c.5724_5725delinsAC	XP_011523155.1:p.Ser1909Arg
XM_011524854.1:c.5724_5725delinsAC	XP_011523156.1:p.Ser1909Arg
XM_011524855.1:c.5724_5725delinsAC	XP_011523157.1:p.Ser1909Arg
XM_011524856.1:c.5724_5725delinsAC	XP_011523158.1:p.Ser1909Arg
XM_011524857.1:c.5763_5764delinsAC	XP_011523159.1:p.Ser1922Arg