Canonical Allele Identifier: CA2255566497

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31248906A= , CM000679.2:g.31248906A=	GRCh38
NC_000017.10:g.29575924A= , CM000679.1:g.29575924A=	GRCh37
NC_000017.9:g.26600050A=	NCBI36
NG_009018.1:g.158930A= , LRG_214:g.158930A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.4020-78A=	ENSP00000512431.1:n.4020-78A=
ENST00000696139.1:c.1438-78A=	ENSP00000512432.1:n.1438-78A=
ENST00000696140.1:n.81-78A=
ENST00000687863.1:n.683-78A=
ENST00000691014.1:c.4005-78A=	ENSP00000510595.1:n.4005-78A=
ENST00000358273.9:c.3975-78A= MANE Select	ENSP00000351015.4:n.3975-78A=
ENST00000356175.7:c.3975-78A=	ENSP00000348498.3:n.3975-78A=
ENST00000358273.8:c.3975-78A=	ENSP00000351015.4:n.3975-78A=
ENST00000456735.6:c.2973-78A=	ENSP00000389907.2:n.2973-78A=
ENST00000466819.5:c.451-78A=
ENST00000479614.1:c.451-78A=
ENST00000493220.5:n.2511-78A=
ENST00000495910.6:c.3750-78A=
ENST00000579081.5:c.4077-78A=	ENSP00000462408.1:n.4077-78A=
NM_000267.3:c.3975-78A= , LRG_214t1:c.3975-78A=	NP_000258.1:n.3975-78A=
NM_001042492.2:c.3975-78A= , LRG_214t2:c.3975-78A=	NP_001035957.1:n.3975-78A=
XM_005257983.1:c.3975-78A=	XP_005258040.1:n.3975-78A=
XM_005257984.1:c.3975-78A=	XP_005258041.1:n.3975-78A=
XM_006721922.1:c.4005-78A=	XP_006721985.1:n.4005-78A=
XM_006721923.2:c.3966-78A=	XP_006721986.1:n.3966-78A=
XM_006721924.1:c.4005-78A=	XP_006721987.1:n.4005-78A=
XM_006721925.1:c.4005-78A=	XP_006721988.1:n.4005-78A=
XM_006721926.2:c.4005-78A=	XP_006721989.1:n.4005-78A=
XM_006721927.1:c.4005-78A=	XP_006721990.1:n.4005-78A=
XM_006721928.2:c.4005-78A=	XP_006721991.1:n.4005-78A=
XM_011524852.1:c.4002-78A=	XP_011523154.1:n.4002-78A=
XM_011524853.1:c.3966-78A=	XP_011523155.1:n.3966-78A=
XM_011524854.1:c.3966-78A=	XP_011523156.1:n.3966-78A=
XM_011524855.1:c.3966-78A=	XP_011523157.1:n.3966-78A=
XM_011524856.1:c.3966-78A=	XP_011523158.1:n.3966-78A=
XM_011524857.1:c.4005-78A=	XP_011523159.1:n.4005-78A=
NM_001042492.3:c.3975-78A= MANE Select	NP_001035957.1:n.3975-78A=