Canonical Allele Identifier: CA16615455
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 404582
ClinVar RCV Id: RCV000477103
dbSNP Id: rs1060500364

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31226504del , CM000679.2:g.31226504del GRCh38
NC_000017.10:g.29553522del , CM000679.1:g.29553522del GRCh37
NC_000017.9:g.26577648del NCBI36
NG_009018.1:g.136528del , LRG_214:g.136528del

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.2116del ENSP00000512431.1:p.Leu706CysfsTer?
ENST00000691014.1:c.2101del ENSP00000510595.1:p.Leu701CysfsTer?
ENST00000358273.9:c.2071del MANE Select ENSP00000351015.4:p.Leu691CysfsTer?
ENST00000356175.7:c.2071del ENSP00000348498.3:p.Leu691CysfsTer?
ENST00000358273.8:c.2071del ENSP00000351015.4:p.Leu691CysfsTer?
ENST00000456735.6:c.1069del ENSP00000389907.2:p.Leu357CysfsTer?
ENST00000493220.5:n.238del
ENST00000495910.6:c.1846del
ENST00000579081.5:c.2173del ENSP00000462408.1:p.Leu725CysfsTer?
NM_000267.3:c.2071del , LRG_214t1:c.2071del NP_000258.1:p.Leu691CysfsTer?
NM_001042492.2:c.2071del , LRG_214t2:c.2071del NP_001035957.1:p.Leu691CysfsTer?
XM_005257983.1:c.2071del XP_005258040.1:p.Leu691CysfsTer?
XM_005257984.1:c.2071del XP_005258041.1:p.Leu691CysfsTer?
XM_006721922.1:c.2101del XP_006721985.1:p.Leu701CysfsTer?
XM_006721923.2:c.2062del XP_006721986.1:p.Leu688CysfsTer?
XM_006721924.1:c.2101del XP_006721987.1:p.Leu701CysfsTer?
XM_006721925.1:c.2101del XP_006721988.1:p.Leu701CysfsTer?
XM_006721926.2:c.2101del XP_006721989.1:p.Leu701CysfsTer?
XM_006721927.1:c.2101del XP_006721990.1:p.Leu701CysfsTer?
XM_006721928.2:c.2101del XP_006721991.1:p.Leu701CysfsTer?
XM_011524852.1:c.2098del XP_011523154.1:p.Leu700CysfsTer?
XM_011524853.1:c.2062del XP_011523155.1:p.Leu688CysfsTer?
XM_011524854.1:c.2062del XP_011523156.1:p.Leu688CysfsTer?
XM_011524855.1:c.2062del XP_011523157.1:p.Leu688CysfsTer?
XM_011524856.1:c.2062del XP_011523158.1:p.Leu688CysfsTer?
XM_011524857.1:c.2101del XP_011523159.1:p.Leu701CysfsTer?
NM_001042492.3:c.2071del MANE Select NP_001035957.1:p.Leu691CysfsTer?