Canonical Allele Identifier: CA658760989

Gene: NF1

Linked Data

• PubMed: PMID:23913538

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338113_31338117del , CM000679.2:g.31338113_31338117del	GRCh38
NC_000017.10:g.29665131_29665135del , CM000679.1:g.29665131_29665135del	GRCh37
NC_000017.9:g.26689257_26689261del	NCBI36
NG_009018.1:g.248137_248141del , LRG_214:g.248137_248141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6775_6779del	ENSP00000512431.1:p.Lys2259AspfsTer6
ENST00000684826.1:c.1357_1361del	ENSP00000509994.1:p.Lys453AspfsTer6
ENST00000684998.1:n.2051_2055del
ENST00000687027.1:c.949_953del	ENSP00000508715.1:p.Lys317AspfsTer6
ENST00000687863.1:n.3438_3442del
ENST00000691014.1:c.6823_6827del	ENSP00000510595.1:p.Lys2275AspfsTer6
ENST00000693617.1:c.1357_1361del	ENSP00000510031.1:p.Lys453AspfsTer6
ENST00000358273.9:c.6793_6797del MANE Select	ENSP00000351015.4:p.Lys2265AspfsTer6
ENST00000356175.7:c.6730_6734del	ENSP00000348498.3:p.Lys2244AspfsTer6
ENST00000358273.8:c.6793_6797del	ENSP00000351015.4:p.Lys2265AspfsTer6
ENST00000456735.6:c.5728_5732del	ENSP00000389907.2:p.Lys1910AspfsTer6
ENST00000471572.6:c.176_180del
ENST00000579081.5:c.6929_6933del	ENSP00000462408.1:n.6929_6933del
ENST00000581790.5:c.64+233_64+237del
ENST00000584328.1:n.207_211del
NM_000267.3:c.6730_6734del , LRG_214t1:c.6730_6734del	NP_000258.1:p.Lys2244AspfsTer6
NM_001042492.2:c.6793_6797del , LRG_214t2:c.6793_6797del	NP_001035957.1:p.Lys2265AspfsTer6
XM_005257983.1:c.6793_6797del	XP_005258040.1:p.Lys2265AspfsTer6
XM_005257984.1:c.6730_6734del	XP_005258041.1:p.Lys2244AspfsTer6
XM_006721922.1:c.6823_6827del	XP_006721985.1:p.Lys2275AspfsTer6
XM_006721923.2:c.6784_6788del	XP_006721986.1:p.Lys2262AspfsTer6
XM_006721924.1:c.6823_6827del	XP_006721987.1:p.Lys2275AspfsTer6
XM_006721925.1:c.6760_6764del	XP_006721988.1:p.Lys2254AspfsTer6
XM_006721926.2:c.6823_6827del	XP_006721989.1:p.Lys2275AspfsTer6
XM_006721927.1:c.6823_6827del	XP_006721990.1:p.Lys2275AspfsTer6
XM_011524852.1:c.6820_6824del	XP_011523154.1:p.Lys2274AspfsTer6
XM_011524853.1:c.6784_6788del	XP_011523155.1:p.Lys2262AspfsTer6
XM_011524854.1:c.6784_6788del	XP_011523156.1:p.Lys2262AspfsTer6
XM_011524855.1:c.6784_6788del	XP_011523157.1:p.Lys2262AspfsTer6
XM_011524856.1:c.6784_6788del	XP_011523158.1:p.Lys2262AspfsTer6
XM_011524857.1:c.6823_6827del	XP_011523159.1:p.Lys2275AspfsTer6
NM_001042492.3:c.6793_6797del MANE Select	NP_001035957.1:p.Lys2265AspfsTer6