Canonical Allele Identifier: CA645509500

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31169962del , CM000679.2:g.31169962del	GRCh38
NC_000017.10:g.29496980del , CM000679.1:g.29496980del	GRCh37
NC_000017.9:g.26521106del	NCBI36
NG_009018.1:g.79986del , LRG_214:g.79986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.551del	ENSP00000512431.1:p.Asn184MetfsTer7
ENST00000691014.1:c.551del	ENSP00000510595.1:p.Asn184MetfsTer7
ENST00000358273.9:c.551del MANE Select	ENSP00000351015.4:p.Asn184MetfsTer7
ENST00000490416.2:c.166+6586del	ENSP00000491431.1:n.166+6586del
ENST00000356175.7:c.551del	ENSP00000348498.3:p.Asn184MetfsTer7
ENST00000358273.8:c.551del	ENSP00000351015.4:p.Asn184MetfsTer7
ENST00000431387.8:c.551del	ENSP00000412921.4:p.Asn184MetfsTer7
ENST00000487476.5:n.934del
ENST00000489712.6:c.350del	ENSP00000467284.1:p.Asn117MetfsTer?
ENST00000490416.1:n.220+6586del
ENST00000495910.6:c.361+6586del
ENST00000579081.5:c.653del	ENSP00000462408.1:p.Asn218MetfsTer7
NM_000267.3:c.551del , LRG_214t1:c.551del	NP_000258.1:p.Asn184MetfsTer7
NM_001042492.2:c.551del , LRG_214t2:c.551del	NP_001035957.1:p.Asn184MetfsTer7
NM_001128147.2:c.551del	NP_001121619.1:p.Asn184MetfsTer7
XM_005257983.1:c.551del	XP_005258040.1:p.Asn184MetfsTer7
XM_005257984.1:c.551del	XP_005258041.1:p.Asn184MetfsTer7
XM_006721922.1:c.551del	XP_006721985.1:p.Asn184MetfsTer7
XM_006721923.2:c.512del	XP_006721986.1:p.Asn171MetfsTer7
XM_006721924.1:c.551del	XP_006721987.1:p.Asn184MetfsTer7
XM_006721925.1:c.551del	XP_006721988.1:p.Asn184MetfsTer7
XM_006721926.2:c.551del	XP_006721989.1:p.Asn184MetfsTer7
XM_006721927.1:c.551del	XP_006721990.1:p.Asn184MetfsTer7
XM_006721928.2:c.551del	XP_006721991.1:p.Asn184MetfsTer7
XM_011524852.1:c.551del	XP_011523154.1:p.Asn184MetfsTer7
XM_011524853.1:c.512del	XP_011523155.1:p.Asn171MetfsTer7
XM_011524854.1:c.512del	XP_011523156.1:p.Asn171MetfsTer7
XM_011524855.1:c.512del	XP_011523157.1:p.Asn171MetfsTer7
XM_011524856.1:c.512del	XP_011523158.1:p.Asn171MetfsTer7
XM_011524857.1:c.551del	XP_011523159.1:p.Asn184MetfsTer7
NM_001042492.3:c.551del MANE Select	NP_001035957.1:p.Asn184MetfsTer7
NM_001128147.3:c.551del	NP_001121619.1:p.Asn184MetfsTer7