Canonical Allele Identifier: CA2255578954

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265256_31265273delinsCAAGGCTTTGAAAACGTT , CM000679.2:g.31265256_31265273delinsCAAGGCTTTGAAAACGTT	GRCh38
NC_000017.10:g.29592274_29592291delinsCAAGGCTTTGAAAACGTT , CM000679.1:g.29592274_29592291delinsCAAGGCTTTGAAAACGTT	GRCh37
NC_000017.9:g.26616400_26616417delinsCAAGGCTTTGAAAACGTT	NCBI36
NG_009018.1:g.175280_175297delinsCAAGGCTTTGAAAACGTT , LRG_214:g.175280_175297delinsCAAGGCTTTGAAAACGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.554_571delinsCAAGGCTTTGAAAACGTT	ENSP00000492721.2:n.554_571delinsCAAGGCTTTGAAAACGTT
ENST00000696138.1:c.4734_4751delinsCAAGGCTTTGAAAACGTT	ENSP00000512431.1:p.Phe1578=
ENST00000696140.1:n.858_875delinsCAAGGCTTTGAAAACGTT
ENST00000696141.1:c.743_760delinsCAAGGCTTTGAAAACGTT
ENST00000687863.1:n.1397_1414delinsCAAGGCTTTGAAAACGTT
ENST00000691014.1:c.4782_4799delinsCAAGGCTTTGAAAACGTT	ENSP00000510595.1:p.Phe1594=
ENST00000358273.9:c.4752_4769delinsCAAGGCTTTGAAAACGTT MANE Select	ENSP00000351015.4:p.Phe1584=
ENST00000356175.7:c.4689_4706delinsCAAGGCTTTGAAAACGTT	ENSP00000348498.3:p.Phe1563=
ENST00000358273.8:c.4752_4769delinsCAAGGCTTTGAAAACGTT	ENSP00000351015.4:p.Phe1584=
ENST00000456735.6:c.3687_3704delinsCAAGGCTTTGAAAACGTT	ENSP00000389907.2:p.Phe1229=
ENST00000493220.5:n.3225_3242delinsCAAGGCTTTGAAAACGTT
ENST00000579081.5:c.4791_4808delinsCAAGGCTTTGAAAACGTT	ENSP00000462408.1:p.Phe1597=
NM_000267.3:c.4689_4706delinsCAAGGCTTTGAAAACGTT , LRG_214t1:c.4689_4706delinsCAAGGCTTTGAAAACGTT	NP_000258.1:p.Phe1563=
NM_001042492.2:c.4752_4769delinsCAAGGCTTTGAAAACGTT , LRG_214t2:c.4752_4769delinsCAAGGCTTTGAAAACGTT	NP_001035957.1:p.Phe1584=
XM_005257983.1:c.4752_4769delinsCAAGGCTTTGAAAACGTT	XP_005258040.1:p.Phe1584=
XM_005257984.1:c.4689_4706delinsCAAGGCTTTGAAAACGTT	XP_005258041.1:p.Phe1563=
XM_006721922.1:c.4782_4799delinsCAAGGCTTTGAAAACGTT	XP_006721985.1:p.Phe1594=
XM_006721923.2:c.4743_4760delinsCAAGGCTTTGAAAACGTT	XP_006721986.1:p.Phe1581=
XM_006721924.1:c.4782_4799delinsCAAGGCTTTGAAAACGTT	XP_006721987.1:p.Phe1594=
XM_006721925.1:c.4719_4736delinsCAAGGCTTTGAAAACGTT	XP_006721988.1:p.Phe1573=
XM_006721926.2:c.4782_4799delinsCAAGGCTTTGAAAACGTT	XP_006721989.1:p.Phe1594=
XM_006721927.1:c.4782_4799delinsCAAGGCTTTGAAAACGTT	XP_006721990.1:p.Phe1594=
XM_006721928.2:c.4782_4799delinsCAAGGCTTTGAAAACGTT	XP_006721991.1:p.Phe1594=
XM_011524852.1:c.4779_4796delinsCAAGGCTTTGAAAACGTT	XP_011523154.1:p.Phe1593=
XM_011524853.1:c.4743_4760delinsCAAGGCTTTGAAAACGTT	XP_011523155.1:p.Phe1581=
XM_011524854.1:c.4743_4760delinsCAAGGCTTTGAAAACGTT	XP_011523156.1:p.Phe1581=
XM_011524855.1:c.4743_4760delinsCAAGGCTTTGAAAACGTT	XP_011523157.1:p.Phe1581=
XM_011524856.1:c.4743_4760delinsCAAGGCTTTGAAAACGTT	XP_011523158.1:p.Phe1581=
XM_011524857.1:c.4782_4799delinsCAAGGCTTTGAAAACGTT	XP_011523159.1:p.Phe1594=
NM_001042492.3:c.4752_4769delinsCAAGGCTTTGAAAACGTT MANE Select	NP_001035957.1:p.Phe1584=