Canonical Allele Identifier: CA2733519918

Gene: NF1

Linked Data

• dbSNP Id: rs2144005172

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31221940_31221941insAC , CM000679.2:g.31221940_31221941insAC	GRCh38
NC_000017.10:g.29548958_29548959insAC , CM000679.1:g.29548958_29548959insAC	GRCh37
NC_000017.9:g.26573084_26573085insAC	NCBI36
NG_009018.1:g.131964_131965insAC , LRG_214:g.131964_131965insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1766+11_1766+12insAC	ENSP00000512431.1:n.1766+11_1766+12insAC
ENST00000686189.1:c.1177_1178insAC	ENSP00000509682.1:p.Phe393TyrfsTer5
ENST00000691014.1:c.1751+11_1751+12insAC	ENSP00000510595.1:n.1751+11_1751+12insAC
ENST00000358273.9:c.1721+11_1721+12insAC MANE Select	ENSP00000351015.4:n.1721+11_1721+12insAC
ENST00000356175.7:c.1721+11_1721+12insAC	ENSP00000348498.3:n.1721+11_1721+12insAC
ENST00000358273.8:c.1721+11_1721+12insAC	ENSP00000351015.4:n.1721+11_1721+12insAC
ENST00000431387.8:c.1732_1733insAC	ENSP00000412921.4:p.Phe578TyrfsTer5
ENST00000456735.6:c.719+11_719+12insAC	ENSP00000389907.2:n.719+11_719+12insAC
ENST00000495910.6:c.1496+11_1496+12insAC
ENST00000579081.5:c.1823+11_1823+12insAC	ENSP00000462408.1:n.1823+11_1823+12insAC
NM_000267.3:c.1721+11_1721+12insAC , LRG_214t1:c.1721+11_1721+12insAC	NP_000258.1:n.1721+11_1721+12insAC
NM_001042492.2:c.1721+11_1721+12insAC , LRG_214t2:c.1721+11_1721+12insAC	NP_001035957.1:n.1721+11_1721+12insAC
NM_001128147.2:c.1732_1733insAC	NP_001121619.1:p.Phe578TyrfsTer5
XM_005257983.1:c.1721+11_1721+12insAC	XP_005258040.1:n.1721+11_1721+12insAC
XM_005257984.1:c.1721+11_1721+12insAC	XP_005258041.1:n.1721+11_1721+12insAC
XM_006721922.1:c.1751+11_1751+12insAC	XP_006721985.1:n.1751+11_1751+12insAC
XM_006721923.2:c.1712+11_1712+12insAC	XP_006721986.1:n.1712+11_1712+12insAC
XM_006721924.1:c.1751+11_1751+12insAC	XP_006721987.1:n.1751+11_1751+12insAC
XM_006721925.1:c.1751+11_1751+12insAC	XP_006721988.1:n.1751+11_1751+12insAC
XM_006721926.2:c.1751+11_1751+12insAC	XP_006721989.1:n.1751+11_1751+12insAC
XM_006721927.1:c.1751+11_1751+12insAC	XP_006721990.1:n.1751+11_1751+12insAC
XM_006721928.2:c.1751+11_1751+12insAC	XP_006721991.1:n.1751+11_1751+12insAC
XM_011524852.1:c.1751+11_1751+12insAC	XP_011523154.1:n.1751+11_1751+12insAC
XM_011524853.1:c.1712+11_1712+12insAC	XP_011523155.1:n.1712+11_1712+12insAC
XM_011524854.1:c.1712+11_1712+12insAC	XP_011523156.1:n.1712+11_1712+12insAC
XM_011524855.1:c.1712+11_1712+12insAC	XP_011523157.1:n.1712+11_1712+12insAC
XM_011524856.1:c.1712+11_1712+12insAC	XP_011523158.1:n.1712+11_1712+12insAC
XM_011524857.1:c.1751+11_1751+12insAC	XP_011523159.1:n.1751+11_1751+12insAC
NM_001042492.3:c.1721+11_1721+12insAC MANE Select	NP_001035957.1:n.1721+11_1721+12insAC
NM_001128147.3:c.1732_1733insAC	NP_001121619.1:p.Phe578TyrfsTer5