Canonical Allele Identifier: CA2733538002

Gene: NF1

Linked Data

• dbSNP Id: rs2143887897

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31201528_31201529insAAA , CM000679.2:g.31201528_31201529insAAA	GRCh38
NC_000017.10:g.29528546_29528547insAAA , CM000679.1:g.29528546_29528547insAAA	GRCh37
NC_000017.9:g.26552672_26552673insAAA	NCBI36
NG_009018.1:g.111552_111553insAAA , LRG_214:g.111552_111553insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1260+43_1260+44insAAA	ENSP00000512431.1:n.1260+43_1260+44insAAA
ENST00000686189.1:c.675+43_675+44insAAA	ENSP00000509682.1:n.675+43_675+44insAAA
ENST00000688507.1:n.1009_1010insAAA
ENST00000691014.1:c.1260+43_1260+44insAAA	ENSP00000510595.1:n.1260+43_1260+44insAAA
ENST00000692326.1:n.1586_1587insAAA
ENST00000358273.9:c.1260+43_1260+44insAAA MANE Select	ENSP00000351015.4:n.1260+43_1260+44insAAA
ENST00000356175.7:c.1260+43_1260+44insAAA	ENSP00000348498.3:n.1260+43_1260+44insAAA
ENST00000358273.8:c.1260+43_1260+44insAAA	ENSP00000351015.4:n.1260+43_1260+44insAAA
ENST00000431387.8:c.1260+43_1260+44insAAA	ENSP00000412921.4:n.1260+43_1260+44insAAA
ENST00000456735.6:c.258+43_258+44insAAA	ENSP00000389907.2:n.258+43_258+44insAAA
ENST00000487476.5:n.1643+43_1643+44insAAA
ENST00000495910.6:c.1035+43_1035+44insAAA
ENST00000579081.5:c.1362+43_1362+44insAAA	ENSP00000462408.1:n.1362+43_1362+44insAAA
NM_000267.3:c.1260+43_1260+44insAAA , LRG_214t1:c.1260+43_1260+44insAAA	NP_000258.1:n.1260+43_1260+44insAAA
NM_001042492.2:c.1260+43_1260+44insAAA , LRG_214t2:c.1260+43_1260+44insAAA	NP_001035957.1:n.1260+43_1260+44insAAA
NM_001128147.2:c.1260+43_1260+44insAAA	NP_001121619.1:n.1260+43_1260+44insAAA
XM_005257983.1:c.1260+43_1260+44insAAA	XP_005258040.1:n.1260+43_1260+44insAAA
XM_005257984.1:c.1260+43_1260+44insAAA	XP_005258041.1:n.1260+43_1260+44insAAA
XM_006721922.1:c.1260+43_1260+44insAAA	XP_006721985.1:n.1260+43_1260+44insAAA
XM_006721923.2:c.1221+43_1221+44insAAA	XP_006721986.1:n.1221+43_1221+44insAAA
XM_006721924.1:c.1260+43_1260+44insAAA	XP_006721987.1:n.1260+43_1260+44insAAA
XM_006721925.1:c.1260+43_1260+44insAAA	XP_006721988.1:n.1260+43_1260+44insAAA
XM_006721926.2:c.1260+43_1260+44insAAA	XP_006721989.1:n.1260+43_1260+44insAAA
XM_006721927.1:c.1260+43_1260+44insAAA	XP_006721990.1:n.1260+43_1260+44insAAA
XM_006721928.2:c.1260+43_1260+44insAAA	XP_006721991.1:n.1260+43_1260+44insAAA
XM_011524852.1:c.1260+43_1260+44insAAA	XP_011523154.1:n.1260+43_1260+44insAAA
XM_011524853.1:c.1221+43_1221+44insAAA	XP_011523155.1:n.1221+43_1221+44insAAA
XM_011524854.1:c.1221+43_1221+44insAAA	XP_011523156.1:n.1221+43_1221+44insAAA
XM_011524855.1:c.1221+43_1221+44insAAA	XP_011523157.1:n.1221+43_1221+44insAAA
XM_011524856.1:c.1221+43_1221+44insAAA	XP_011523158.1:n.1221+43_1221+44insAAA
XM_011524857.1:c.1260+43_1260+44insAAA	XP_011523159.1:n.1260+43_1260+44insAAA
NM_001042492.3:c.1260+43_1260+44insAAA MANE Select	NP_001035957.1:n.1260+43_1260+44insAAA
NM_001128147.3:c.1260+43_1260+44insAAA	NP_001121619.1:n.1260+43_1260+44insAAA