Canonical Allele Identifier: CA2576222862
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31229958_31229960del , CM000679.2:g.31229958_31229960del GRCh38
NC_000017.10:g.29556976_29556978del , CM000679.1:g.29556976_29556978del GRCh37
NC_000017.9:g.26581102_26581104del NCBI36
NG_009018.1:g.139982_139984del , LRG_214:g.139982_139984del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.3019_3021del ENSP00000512431.1:p.Met1007del
ENST00000696139.1:c.319_321del ENSP00000512432.1:p.Met107del
ENST00000691014.1:c.3004_3006del ENSP00000510595.1:p.Met1002del
ENST00000358273.9:c.2974_2976del MANE Select ENSP00000351015.4:p.Met992del
ENST00000356175.7:c.2974_2976del ENSP00000348498.3:p.Met992del
ENST00000358273.8:c.2974_2976del ENSP00000351015.4:p.Met992del
ENST00000456735.6:c.1972_1974del ENSP00000389907.2:p.Met658del
ENST00000493220.5:n.1510_1512del
ENST00000495910.6:c.2749_2751del
ENST00000579081.5:c.3076_3078del ENSP00000462408.1:p.Met1026del
NM_000267.3:c.2974_2976del , LRG_214t1:c.2974_2976del NP_000258.1:p.Met992del
NM_001042492.2:c.2974_2976del , LRG_214t2:c.2974_2976del NP_001035957.1:p.Met992del
XM_005257983.1:c.2974_2976del XP_005258040.1:p.Met992del
XM_005257984.1:c.2974_2976del XP_005258041.1:p.Met992del
XM_006721922.1:c.3004_3006del XP_006721985.1:p.Met1002del
XM_006721923.2:c.2965_2967del XP_006721986.1:p.Met989del
XM_006721924.1:c.3004_3006del XP_006721987.1:p.Met1002del
XM_006721925.1:c.3004_3006del XP_006721988.1:p.Met1002del
XM_006721926.2:c.3004_3006del XP_006721989.1:p.Met1002del
XM_006721927.1:c.3004_3006del XP_006721990.1:p.Met1002del
XM_006721928.2:c.3004_3006del XP_006721991.1:p.Met1002del
XM_011524852.1:c.3001_3003del XP_011523154.1:p.Met1001del
XM_011524853.1:c.2965_2967del XP_011523155.1:p.Met989del
XM_011524854.1:c.2965_2967del XP_011523156.1:p.Met989del
XM_011524855.1:c.2965_2967del XP_011523157.1:p.Met989del
XM_011524856.1:c.2965_2967del XP_011523158.1:p.Met989del
XM_011524857.1:c.3004_3006del XP_011523159.1:p.Met1002del
NM_001042492.3:c.2974_2976del MANE Select NP_001035957.1:p.Met992del