Canonical Allele Identifier: CA2255578947

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265246_31265248delinsAAG , CM000679.2:g.31265246_31265248delinsAAG	GRCh38
NC_000017.10:g.29592264_29592266delinsAAG , CM000679.1:g.29592264_29592266delinsAAG	GRCh37
NC_000017.9:g.26616390_26616392delinsAAG	NCBI36
NG_009018.1:g.175270_175272delinsAAG , LRG_214:g.175270_175272delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.544_546delinsAAG	ENSP00000492721.2:n.544_546delinsAAG
ENST00000696138.1:c.4724_4726delinsAAG	ENSP00000512431.1:p.Lys1575=
ENST00000696140.1:n.848_850delinsAAG
ENST00000696141.1:c.733_735delinsAAG
ENST00000687863.1:n.1387_1389delinsAAG
ENST00000691014.1:c.4772_4774delinsAAG	ENSP00000510595.1:p.Lys1591=
ENST00000358273.9:c.4742_4744delinsAAG MANE Select	ENSP00000351015.4:p.Lys1581=
ENST00000356175.7:c.4679_4681delinsAAG	ENSP00000348498.3:p.Lys1560=
ENST00000358273.8:c.4742_4744delinsAAG	ENSP00000351015.4:p.Lys1581=
ENST00000456735.6:c.3677_3679delinsAAG	ENSP00000389907.2:p.Lys1226=
ENST00000493220.5:n.3215_3217delinsAAG
ENST00000579081.5:c.4781_4783delinsAAG	ENSP00000462408.1:p.Lys1594=
NM_000267.3:c.4679_4681delinsAAG , LRG_214t1:c.4679_4681delinsAAG	NP_000258.1:p.Lys1560=
NM_001042492.2:c.4742_4744delinsAAG , LRG_214t2:c.4742_4744delinsAAG	NP_001035957.1:p.Lys1581=
XM_005257983.1:c.4742_4744delinsAAG	XP_005258040.1:p.Lys1581=
XM_005257984.1:c.4679_4681delinsAAG	XP_005258041.1:p.Lys1560=
XM_006721922.1:c.4772_4774delinsAAG	XP_006721985.1:p.Lys1591=
XM_006721923.2:c.4733_4735delinsAAG	XP_006721986.1:p.Lys1578=
XM_006721924.1:c.4772_4774delinsAAG	XP_006721987.1:p.Lys1591=
XM_006721925.1:c.4709_4711delinsAAG	XP_006721988.1:p.Lys1570=
XM_006721926.2:c.4772_4774delinsAAG	XP_006721989.1:p.Lys1591=
XM_006721927.1:c.4772_4774delinsAAG	XP_006721990.1:p.Lys1591=
XM_006721928.2:c.4772_4774delinsAAG	XP_006721991.1:p.Lys1591=
XM_011524852.1:c.4769_4771delinsAAG	XP_011523154.1:p.Lys1590=
XM_011524853.1:c.4733_4735delinsAAG	XP_011523155.1:p.Lys1578=
XM_011524854.1:c.4733_4735delinsAAG	XP_011523156.1:p.Lys1578=
XM_011524855.1:c.4733_4735delinsAAG	XP_011523157.1:p.Lys1578=
XM_011524856.1:c.4733_4735delinsAAG	XP_011523158.1:p.Lys1578=
XM_011524857.1:c.4772_4774delinsAAG	XP_011523159.1:p.Lys1591=
NM_001042492.3:c.4742_4744delinsAAG MANE Select	NP_001035957.1:p.Lys1581=