Canonical Allele Identifier: CA16043520
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374082
ClinVar RCV Id: RCV000414793
dbSNP Id: rs1057518884

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31155990del , CM000679.2:g.31155990del GRCh38
NC_000017.10:g.29483008del , CM000679.1:g.29483008del GRCh37
NC_000017.9:g.26507134del NCBI36
NG_009018.1:g.66014del , LRG_214:g.66014del

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.68del ENSP00000512431.1:p.Ile23LysfsTer21
ENST00000691014.1:c.68del ENSP00000510595.1:p.Ile23LysfsTer21
ENST00000358273.9:c.68del MANE Select ENSP00000351015.4:p.Ile23LysfsTer21
ENST00000356175.7:c.68del ENSP00000348498.3:p.Ile23LysfsTer21
ENST00000358273.8:c.68del ENSP00000351015.4:p.Ile23LysfsTer21
ENST00000431387.8:c.68del ENSP00000412921.4:p.Ile23LysfsTer21
ENST00000487476.5:n.451del
ENST00000489712.6:c.-134del ENSP00000467284.1:n.-134del
ENST00000579081.5:c.170del ENSP00000462408.1:p.Ile57LysfsTer21
NM_000267.3:c.68del , LRG_214t1:c.68del NP_000258.1:p.Ile23LysfsTer21
NM_001042492.2:c.68del , LRG_214t2:c.68del NP_001035957.1:p.Ile23LysfsTer21
NM_001128147.2:c.68del NP_001121619.1:p.Ile23LysfsTer21
XM_005257983.1:c.68del XP_005258040.1:p.Ile23LysfsTer21
XM_005257984.1:c.68del XP_005258041.1:p.Ile23LysfsTer21
XM_006721922.1:c.68del XP_006721985.1:p.Ile23LysfsTer21
XM_006721923.2:c.29del XP_006721986.1:p.Ile10LysfsTer21
XM_006721924.1:c.68del XP_006721987.1:p.Ile23LysfsTer21
XM_006721925.1:c.68del XP_006721988.1:p.Ile23LysfsTer21
XM_006721926.2:c.68del XP_006721989.1:p.Ile23LysfsTer21
XM_006721927.1:c.68del XP_006721990.1:p.Ile23LysfsTer21
XM_006721928.2:c.68del XP_006721991.1:p.Ile23LysfsTer21
XM_011524852.1:c.68del XP_011523154.1:p.Ile23LysfsTer21
XM_011524853.1:c.29del XP_011523155.1:p.Ile10LysfsTer21
XM_011524854.1:c.29del XP_011523156.1:p.Ile10LysfsTer21
XM_011524855.1:c.29del XP_011523157.1:p.Ile10LysfsTer21
XM_011524856.1:c.29del XP_011523158.1:p.Ile10LysfsTer21
XM_011524857.1:c.68del XP_011523159.1:p.Ile23LysfsTer21
NM_001042492.3:c.68del MANE Select NP_001035957.1:p.Ile23LysfsTer21
NM_001128147.3:c.68del NP_001121619.1:p.Ile23LysfsTer21