Canonical Allele Identifier: CA2255559591

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31221989_31221992delinsGAAA , CM000679.2:g.31221989_31221992delinsGAAA	GRCh38
NC_000017.10:g.29549007_29549010delinsGAAA , CM000679.1:g.29549007_29549010delinsGAAA	GRCh37
NC_000017.9:g.26573133_26573136delinsGAAA	NCBI36
NG_009018.1:g.132013_132016delinsGAAA , LRG_214:g.132013_132016delinsGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1766+60_1766+63delinsGAAA	ENSP00000512431.1:n.1766+60_1766+63delinsGAAA
ENST00000686189.1:c.1226_1229delinsGAAA	ENSP00000509682.1:n.[c.1226_1229delinsGAAA;Ter409=]
ENST00000691014.1:c.1751+60_1751+63delinsGAAA	ENSP00000510595.1:n.1751+60_1751+63delinsGAAA
ENST00000358273.9:c.1721+60_1721+63delinsGAAA MANE Select	ENSP00000351015.4:n.1721+60_1721+63delinsGAAA
ENST00000356175.7:c.1721+60_1721+63delinsGAAA	ENSP00000348498.3:n.1721+60_1721+63delinsGAAA
ENST00000358273.8:c.1721+60_1721+63delinsGAAA	ENSP00000351015.4:n.1721+60_1721+63delinsGAAA
ENST00000431387.8:c.1781_*2delinsGAAA	ENSP00000412921.4:n.[c.1781_*2delinsGAAA;Ter594=]
ENST00000456735.6:c.719+60_719+63delinsGAAA	ENSP00000389907.2:n.719+60_719+63delinsGAAA
ENST00000495910.6:c.1496+60_1496+63delinsGAAA
ENST00000579081.5:c.1823+60_1823+63delinsGAAA	ENSP00000462408.1:n.1823+60_1823+63delinsGAAA
NM_000267.3:c.1721+60_1721+63delinsGAAA , LRG_214t1:c.1721+60_1721+63delinsGAAA	NP_000258.1:n.1721+60_1721+63delinsGAAA
NM_001042492.2:c.1721+60_1721+63delinsGAAA , LRG_214t2:c.1721+60_1721+63delinsGAAA	NP_001035957.1:n.1721+60_1721+63delinsGAAA
NM_001128147.2:c.1781_*2delinsGAAA	NP_001121619.1:n.[c.1781_*2delinsGAAA;Ter594=]
XM_005257983.1:c.1721+60_1721+63delinsGAAA	XP_005258040.1:n.1721+60_1721+63delinsGAAA
XM_005257984.1:c.1721+60_1721+63delinsGAAA	XP_005258041.1:n.1721+60_1721+63delinsGAAA
XM_006721922.1:c.1751+60_1751+63delinsGAAA	XP_006721985.1:n.1751+60_1751+63delinsGAAA
XM_006721923.2:c.1712+60_1712+63delinsGAAA	XP_006721986.1:n.1712+60_1712+63delinsGAAA
XM_006721924.1:c.1751+60_1751+63delinsGAAA	XP_006721987.1:n.1751+60_1751+63delinsGAAA
XM_006721925.1:c.1751+60_1751+63delinsGAAA	XP_006721988.1:n.1751+60_1751+63delinsGAAA
XM_006721926.2:c.1751+60_1751+63delinsGAAA	XP_006721989.1:n.1751+60_1751+63delinsGAAA
XM_006721927.1:c.1751+60_1751+63delinsGAAA	XP_006721990.1:n.1751+60_1751+63delinsGAAA
XM_006721928.2:c.1751+60_1751+63delinsGAAA	XP_006721991.1:n.1751+60_1751+63delinsGAAA
XM_011524852.1:c.1751+60_1751+63delinsGAAA	XP_011523154.1:n.1751+60_1751+63delinsGAAA
XM_011524853.1:c.1712+60_1712+63delinsGAAA	XP_011523155.1:n.1712+60_1712+63delinsGAAA
XM_011524854.1:c.1712+60_1712+63delinsGAAA	XP_011523156.1:n.1712+60_1712+63delinsGAAA
XM_011524855.1:c.1712+60_1712+63delinsGAAA	XP_011523157.1:n.1712+60_1712+63delinsGAAA
XM_011524856.1:c.1712+60_1712+63delinsGAAA	XP_011523158.1:n.1712+60_1712+63delinsGAAA
XM_011524857.1:c.1751+60_1751+63delinsGAAA	XP_011523159.1:n.1751+60_1751+63delinsGAAA
NM_001042492.3:c.1721+60_1721+63delinsGAAA MANE Select	NP_001035957.1:n.1721+60_1721+63delinsGAAA
NM_001128147.3:c.1781_*2delinsGAAA	NP_001121619.1:n.[c.1781_*2delinsGAAA;Ter594=]