Canonical Allele Identifier: CA16620363
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422360
ClinVar RCV Id: RCV000485560
dbSNP Id: rs1064795730

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31229406_31229415del , CM000679.2:g.31229406_31229415del GRCh38
NC_000017.10:g.29556424_29556433del , CM000679.1:g.29556424_29556433del GRCh37
NC_000017.9:g.26580550_26580559del NCBI36
NG_009018.1:g.139430_139439del , LRG_214:g.139430_139439del

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.2836_2845del ENSP00000512431.1:p.Pro946LeufsTer4
ENST00000696139.1:c.136_145del ENSP00000512432.1:p.Pro46LeufsTer4
ENST00000691014.1:c.2821_2830del ENSP00000510595.1:p.Pro941LeufsTer4
ENST00000358273.9:c.2791_2800del MANE Select ENSP00000351015.4:p.Pro931LeufsTer4
ENST00000356175.7:c.2791_2800del ENSP00000348498.3:p.Pro931LeufsTer4
ENST00000358273.8:c.2791_2800del ENSP00000351015.4:p.Pro931LeufsTer4
ENST00000456735.6:c.1789_1798del ENSP00000389907.2:p.Pro597LeufsTer4
ENST00000493220.5:n.958_967del
ENST00000495910.6:c.2566_2575del
ENST00000579081.5:c.2893_2902del ENSP00000462408.1:p.Pro965LeufsTer4
NM_000267.3:c.2791_2800del , LRG_214t1:c.2791_2800del NP_000258.1:p.Pro931LeufsTer4
NM_001042492.2:c.2791_2800del , LRG_214t2:c.2791_2800del NP_001035957.1:p.Pro931LeufsTer4
XM_005257983.1:c.2791_2800del XP_005258040.1:p.Pro931LeufsTer4
XM_005257984.1:c.2791_2800del XP_005258041.1:p.Pro931LeufsTer4
XM_006721922.1:c.2821_2830del XP_006721985.1:p.Pro941LeufsTer4
XM_006721923.2:c.2782_2791del XP_006721986.1:p.Pro928LeufsTer4
XM_006721924.1:c.2821_2830del XP_006721987.1:p.Pro941LeufsTer4
XM_006721925.1:c.2821_2830del XP_006721988.1:p.Pro941LeufsTer4
XM_006721926.2:c.2821_2830del XP_006721989.1:p.Pro941LeufsTer4
XM_006721927.1:c.2821_2830del XP_006721990.1:p.Pro941LeufsTer4
XM_006721928.2:c.2821_2830del XP_006721991.1:p.Pro941LeufsTer4
XM_011524852.1:c.2818_2827del XP_011523154.1:p.Pro940LeufsTer4
XM_011524853.1:c.2782_2791del XP_011523155.1:p.Pro928LeufsTer4
XM_011524854.1:c.2782_2791del XP_011523156.1:p.Pro928LeufsTer4
XM_011524855.1:c.2782_2791del XP_011523157.1:p.Pro928LeufsTer4
XM_011524856.1:c.2782_2791del XP_011523158.1:p.Pro928LeufsTer4
XM_011524857.1:c.2821_2830del XP_011523159.1:p.Pro941LeufsTer4
NM_001042492.3:c.2791_2800del MANE Select NP_001035957.1:p.Pro931LeufsTer4