Canonical Allele Identifier: CA2255559607

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31222005A= , CM000679.2:g.31222005A=	GRCh38
NC_000017.10:g.29549023A= , CM000679.1:g.29549023A=	GRCh37
NC_000017.9:g.26573149A=	NCBI36
NG_009018.1:g.132029A= , LRG_214:g.132029A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1766+76A=	ENSP00000512431.1:n.1766+76A=
ENST00000686189.1:c.1242A=	ENSP00000509682.1:n.1242A=
ENST00000691014.1:c.1751+76A=	ENSP00000510595.1:n.1751+76A=
ENST00000358273.9:c.1721+76A= MANE Select	ENSP00000351015.4:n.1721+76A=
ENST00000356175.7:c.1721+76A=	ENSP00000348498.3:n.1721+76A=
ENST00000358273.8:c.1721+76A=	ENSP00000351015.4:n.1721+76A=
ENST00000431387.8:c.*15A=	ENSP00000412921.4:n.*15A=
ENST00000456735.6:c.719+76A=	ENSP00000389907.2:n.719+76A=
ENST00000495910.6:c.1496+76A=
ENST00000579081.5:c.1823+76A=	ENSP00000462408.1:n.1823+76A=
NM_000267.3:c.1721+76A= , LRG_214t1:c.1721+76A=	NP_000258.1:n.1721+76A=
NM_001042492.2:c.1721+76A= , LRG_214t2:c.1721+76A=	NP_001035957.1:n.1721+76A=
NM_001128147.2:c.*15A=	NP_001121619.1:n.*15A=
XM_005257983.1:c.1721+76A=	XP_005258040.1:n.1721+76A=
XM_005257984.1:c.1721+76A=	XP_005258041.1:n.1721+76A=
XM_006721922.1:c.1751+76A=	XP_006721985.1:n.1751+76A=
XM_006721923.2:c.1712+76A=	XP_006721986.1:n.1712+76A=
XM_006721924.1:c.1751+76A=	XP_006721987.1:n.1751+76A=
XM_006721925.1:c.1751+76A=	XP_006721988.1:n.1751+76A=
XM_006721926.2:c.1751+76A=	XP_006721989.1:n.1751+76A=
XM_006721927.1:c.1751+76A=	XP_006721990.1:n.1751+76A=
XM_006721928.2:c.1751+76A=	XP_006721991.1:n.1751+76A=
XM_011524852.1:c.1751+76A=	XP_011523154.1:n.1751+76A=
XM_011524853.1:c.1712+76A=	XP_011523155.1:n.1712+76A=
XM_011524854.1:c.1712+76A=	XP_011523156.1:n.1712+76A=
XM_011524855.1:c.1712+76A=	XP_011523157.1:n.1712+76A=
XM_011524856.1:c.1712+76A=	XP_011523158.1:n.1712+76A=
XM_011524857.1:c.1751+76A=	XP_011523159.1:n.1751+76A=
NM_001042492.3:c.1721+76A= MANE Select	NP_001035957.1:n.1721+76A=
NM_001128147.3:c.*15A=	NP_001121619.1:n.*15A=