Canonical Allele Identifier: CA916080617
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 848118
ClinVar RCV Id: RCV001051807
dbSNP Id: rs1567848878

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31229161dup , CM000679.2:g.31229161dup GRCh38
NC_000017.10:g.29556179dup , CM000679.1:g.29556179dup GRCh37
NC_000017.9:g.26580305dup NCBI36
NG_009018.1:g.139185dup , LRG_214:g.139185dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.2591dup ENSP00000512431.1:p.Val865SerfsTer15
ENST00000691014.1:c.2576dup ENSP00000510595.1:p.Val860SerfsTer15
ENST00000358273.9:c.2546dup MANE Select ENSP00000351015.4:p.Val850SerfsTer15
ENST00000356175.7:c.2546dup ENSP00000348498.3:p.Val850SerfsTer15
ENST00000358273.8:c.2546dup ENSP00000351015.4:p.Val850SerfsTer15
ENST00000456735.6:c.1544dup ENSP00000389907.2:p.Val516SerfsTer15
ENST00000493220.5:n.713dup
ENST00000495910.6:c.2321dup
ENST00000579081.5:c.2648dup ENSP00000462408.1:p.Val884SerfsTer15
NM_000267.3:c.2546dup , LRG_214t1:c.2546dup NP_000258.1:p.Val850SerfsTer15
NM_001042492.2:c.2546dup , LRG_214t2:c.2546dup NP_001035957.1:p.Val850SerfsTer15
XM_005257983.1:c.2546dup XP_005258040.1:p.Val850SerfsTer15
XM_005257984.1:c.2546dup XP_005258041.1:p.Val850SerfsTer15
XM_006721922.1:c.2576dup XP_006721985.1:p.Val860SerfsTer15
XM_006721923.2:c.2537dup XP_006721986.1:p.Val847SerfsTer15
XM_006721924.1:c.2576dup XP_006721987.1:p.Val860SerfsTer15
XM_006721925.1:c.2576dup XP_006721988.1:p.Val860SerfsTer15
XM_006721926.2:c.2576dup XP_006721989.1:p.Val860SerfsTer15
XM_006721927.1:c.2576dup XP_006721990.1:p.Val860SerfsTer15
XM_006721928.2:c.2576dup XP_006721991.1:p.Val860SerfsTer15
XM_011524852.1:c.2573dup XP_011523154.1:p.Val859SerfsTer15
XM_011524853.1:c.2537dup XP_011523155.1:p.Val847SerfsTer15
XM_011524854.1:c.2537dup XP_011523156.1:p.Val847SerfsTer15
XM_011524855.1:c.2537dup XP_011523157.1:p.Val847SerfsTer15
XM_011524856.1:c.2537dup XP_011523158.1:p.Val847SerfsTer15
XM_011524857.1:c.2576dup XP_011523159.1:p.Val860SerfsTer15
NM_001042492.3:c.2546dup MANE Select NP_001035957.1:p.Val850SerfsTer15