Canonical Allele Identifier: CA2509715323

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330466_31330467insAAATTAAA , CM000679.2:g.31330466_31330467insAAATTAAA	GRCh38
NC_000017.10:g.29657484_29657485insAAATTAAA , CM000679.1:g.29657484_29657485insAAATTAAA	GRCh37
NC_000017.9:g.26681610_26681611insAAATTAAA	NCBI36
NG_009018.1:g.240490_240491insAAATTAAA , LRG_214:g.240490_240491insAAATTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1968_1969insAAATTAAA	ENSP00000492721.2:n.1968_1969insAAATTAAA
ENST00000696138.1:c.5762_5763insAAATTAAA	ENSP00000512431.1:p.Glu1922AsnfsTer2
ENST00000684826.1:c.344_345insAAATTAAA	ENSP00000509994.1:p.Glu116AsnfsTer2
ENST00000687027.1:c.-65_-64insAAATTAAA	ENSP00000508715.1:n.-65_-64insAAATTAAA
ENST00000687863.1:n.2425_2426insAAATTAAA
ENST00000691014.1:c.5810_5811insAAATTAAA	ENSP00000510595.1:p.Glu1938AsnfsTer2
ENST00000693617.1:c.344_345insAAATTAAA	ENSP00000510031.1:p.Glu116AsnfsTer2
ENST00000358273.9:c.5780_5781insAAATTAAA MANE Select	ENSP00000351015.4:p.Glu1928AsnfsTer2
ENST00000356175.7:c.5717_5718insAAATTAAA	ENSP00000348498.3:p.Glu1907AsnfsTer2
ENST00000358273.8:c.5780_5781insAAATTAAA	ENSP00000351015.4:p.Glu1928AsnfsTer2
ENST00000456735.6:c.4715_4716insAAATTAAA	ENSP00000389907.2:p.Glu1573AsnfsTer2
ENST00000479536.2:c.138_139insAAATTAAA
ENST00000493220.5:n.4253_4254insAAATTAAA
ENST00000579081.5:c.5916_5917insAAATTAAA	ENSP00000462408.1:n.5916_5917insAAATTAAA
ENST00000581113.6:n.1097_1098insAAATTAAA
NM_000267.3:c.5717_5718insAAATTAAA , LRG_214t1:c.5717_5718insAAATTAAA	NP_000258.1:p.Glu1907AsnfsTer2
NM_001042492.2:c.5780_5781insAAATTAAA , LRG_214t2:c.5780_5781insAAATTAAA	NP_001035957.1:p.Glu1928AsnfsTer2
XM_005257983.1:c.5780_5781insAAATTAAA	XP_005258040.1:p.Glu1928AsnfsTer2
XM_005257984.1:c.5717_5718insAAATTAAA	XP_005258041.1:p.Glu1907AsnfsTer2
XM_006721922.1:c.5810_5811insAAATTAAA	XP_006721985.1:p.Glu1938AsnfsTer2
XM_006721923.2:c.5771_5772insAAATTAAA	XP_006721986.1:p.Glu1925AsnfsTer2
XM_006721924.1:c.5810_5811insAAATTAAA	XP_006721987.1:p.Glu1938AsnfsTer2
XM_006721925.1:c.5747_5748insAAATTAAA	XP_006721988.1:p.Glu1917AsnfsTer2
XM_006721926.2:c.5810_5811insAAATTAAA	XP_006721989.1:p.Glu1938AsnfsTer2
XM_006721927.1:c.5810_5811insAAATTAAA	XP_006721990.1:p.Glu1938AsnfsTer2
XM_011524852.1:c.5807_5808insAAATTAAA	XP_011523154.1:p.Glu1937AsnfsTer2
XM_011524853.1:c.5771_5772insAAATTAAA	XP_011523155.1:p.Glu1925AsnfsTer2
XM_011524854.1:c.5771_5772insAAATTAAA	XP_011523156.1:p.Glu1925AsnfsTer2
XM_011524855.1:c.5771_5772insAAATTAAA	XP_011523157.1:p.Glu1925AsnfsTer2
XM_011524856.1:c.5771_5772insAAATTAAA	XP_011523158.1:p.Glu1925AsnfsTer2
XM_011524857.1:c.5810_5811insAAATTAAA	XP_011523159.1:p.Glu1938AsnfsTer2
NM_001042492.3:c.5780_5781insAAATTAAA MANE Select	NP_001035957.1:p.Glu1928AsnfsTer2