Canonical Allele Identifier: CA2573054386

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31258353_31258356del , CM000679.2:g.31258353_31258356del	GRCh38
NC_000017.10:g.29585371_29585374del , CM000679.1:g.29585371_29585374del	GRCh37
NC_000017.9:g.26609497_26609500del	NCBI36
NG_009018.1:g.168377_168380del , LRG_214:g.168377_168380del

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.4183_4186del MANE Select	NP_001035957.1:p.Gln1395ValfsTer10
ENST00000358273.9:c.4183_4186del MANE Select	ENSP00000351015.4:p.Gln1395ValfsTer10
NM_000267.3:c.4120_4123del , LRG_214t1:c.4120_4123del	NP_000258.1:p.Gln1374ValfsTer10
NM_001042492.2:c.4183_4186del , LRG_214t2:c.4183_4186del	NP_001035957.1:p.Gln1395ValfsTer10
ENST00000356175.7:c.4120_4123del	ENSP00000348498.3:p.Gln1374ValfsTer10
ENST00000358273.8:c.4183_4186del	ENSP00000351015.4:p.Gln1395ValfsTer10
ENST00000456735.6:c.3118_3121del	ENSP00000389907.2:p.Gln1040ValfsTer10
ENST00000466819.5:c.699_702del
ENST00000479614.1:c.636_639del
ENST00000493220.5:n.2656_2659del
ENST00000579081.5:c.4222_4225del	ENSP00000462408.1:p.Gln1408ValfsTer10
ENST00000687863.1:n.828_831del
ENST00000691014.1:c.4213_4216del	ENSP00000510595.1:p.Gln1405ValfsTer10
ENST00000691649.1:n.155_158del
ENST00000696138.1:c.4165_4168del	ENSP00000512431.1:p.Gln1389ValfsTer10
ENST00000696140.1:n.289_292del
ENST00000696141.1:c.174_177del
XM_005257983.1:c.4183_4186del	XP_005258040.1:p.Gln1395ValfsTer10
XM_005257984.1:c.4120_4123del	XP_005258041.1:p.Gln1374ValfsTer10
XM_006721922.1:c.4213_4216del	XP_006721985.1:p.Gln1405ValfsTer10
XM_006721923.2:c.4174_4177del	XP_006721986.1:p.Gln1392ValfsTer10
XM_006721924.1:c.4213_4216del	XP_006721987.1:p.Gln1405ValfsTer10
XM_006721925.1:c.4150_4153del	XP_006721988.1:p.Gln1384ValfsTer10
XM_006721926.2:c.4213_4216del	XP_006721989.1:p.Gln1405ValfsTer10
XM_006721927.1:c.4213_4216del	XP_006721990.1:p.Gln1405ValfsTer10
XM_006721928.2:c.4213_4216del	XP_006721991.1:p.Gln1405ValfsTer10
XM_011524852.1:c.4210_4213del	XP_011523154.1:p.Gln1404ValfsTer10
XM_011524853.1:c.4174_4177del	XP_011523155.1:p.Gln1392ValfsTer10
XM_011524854.1:c.4174_4177del	XP_011523156.1:p.Gln1392ValfsTer10
XM_011524855.1:c.4174_4177del	XP_011523157.1:p.Gln1392ValfsTer10
XM_011524856.1:c.4174_4177del	XP_011523158.1:p.Gln1392ValfsTer10
XM_011524857.1:c.4213_4216del	XP_011523159.1:p.Gln1405ValfsTer10