Canonical Allele Identifier: CA2739290931

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229148_31229156del , CM000679.2:g.31229148_31229156del	GRCh38
NC_000017.10:g.29556166_29556174del , CM000679.1:g.29556166_29556174del	GRCh37
NC_000017.9:g.26580292_26580300del	NCBI36
NG_009018.1:g.139172_139180del , LRG_214:g.139172_139180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.2578_2586del	ENSP00000512431.1:p.Cys860_Leu862del
ENST00000691014.1:c.2563_2571del	ENSP00000510595.1:p.Cys855_Leu857del
ENST00000358273.9:c.2533_2541del MANE Select	ENSP00000351015.4:p.Cys845_Leu847del
ENST00000356175.7:c.2533_2541del	ENSP00000348498.3:p.Cys845_Leu847del
ENST00000358273.8:c.2533_2541del	ENSP00000351015.4:p.Cys845_Leu847del
ENST00000456735.6:c.1531_1539del	ENSP00000389907.2:p.Cys511_Leu513del
ENST00000493220.5:n.700_708del
ENST00000495910.6:c.2308_2316del
ENST00000579081.5:c.2635_2643del	ENSP00000462408.1:p.Cys879_Leu881del
NM_000267.3:c.2533_2541del , LRG_214t1:c.2533_2541del	NP_000258.1:p.Cys845_Leu847del
NM_001042492.2:c.2533_2541del , LRG_214t2:c.2533_2541del	NP_001035957.1:p.Cys845_Leu847del
XM_005257983.1:c.2533_2541del	XP_005258040.1:p.Cys845_Leu847del
XM_005257984.1:c.2533_2541del	XP_005258041.1:p.Cys845_Leu847del
XM_006721922.1:c.2563_2571del	XP_006721985.1:p.Cys855_Leu857del
XM_006721923.2:c.2524_2532del	XP_006721986.1:p.Cys842_Leu844del
XM_006721924.1:c.2563_2571del	XP_006721987.1:p.Cys855_Leu857del
XM_006721925.1:c.2563_2571del	XP_006721988.1:p.Cys855_Leu857del
XM_006721926.2:c.2563_2571del	XP_006721989.1:p.Cys855_Leu857del
XM_006721927.1:c.2563_2571del	XP_006721990.1:p.Cys855_Leu857del
XM_006721928.2:c.2563_2571del	XP_006721991.1:p.Cys855_Leu857del
XM_011524852.1:c.2560_2568del	XP_011523154.1:p.Cys854_Leu856del
XM_011524853.1:c.2524_2532del	XP_011523155.1:p.Cys842_Leu844del
XM_011524854.1:c.2524_2532del	XP_011523156.1:p.Cys842_Leu844del
XM_011524855.1:c.2524_2532del	XP_011523157.1:p.Cys842_Leu844del
XM_011524856.1:c.2524_2532del	XP_011523158.1:p.Cys842_Leu844del
XM_011524857.1:c.2563_2571del	XP_011523159.1:p.Cys855_Leu857del
NM_001042492.3:c.2533_2541del MANE Select	NP_001035957.1:p.Cys845_Leu847del