Canonical Allele Identifier: CA337846
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216867
ClinVar RCV Id: RCV000198354
dbSNP Id: rs863224837

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31357018dup , CM000679.2:g.31357018dup GRCh38
NC_000017.10:g.29684036dup , CM000679.1:g.29684036dup GRCh37
NC_000017.9:g.26708162dup NCBI36
NG_009018.1:g.267042dup , LRG_214:g.267042dup

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.7779dup ENSP00000512431.1:p.Glu2594Ter
ENST00000684826.1:c.2361dup ENSP00000509994.1:p.Glu788Ter
ENST00000687027.1:c.1953dup ENSP00000508715.1:p.Glu652Ter
ENST00000687863.1:n.4442dup
ENST00000689464.1:c.847dup
ENST00000691014.1:c.7827dup ENSP00000510595.1:p.Glu2610Ter
ENST00000693617.1:c.2361dup ENSP00000510031.1:p.Glu788Ter
ENST00000358273.9:c.7797dup MANE Select ENSP00000351015.4:p.Glu2600Ter
ENST00000356175.7:c.7734dup ENSP00000348498.3:p.Glu2579Ter
ENST00000358273.8:c.7797dup ENSP00000351015.4:p.Glu2600Ter
ENST00000456735.6:c.6732dup ENSP00000389907.2:p.Glu2245Ter
ENST00000471572.6:c.1180dup
ENST00000577967.1:n.1215dup
ENST00000579081.5:c.7933dup ENSP00000462408.1:n.7933dup
ENST00000581790.5:c.782dup
NM_000267.3:c.7734dup , LRG_214t1:c.7734dup NP_000258.1:p.Glu2579Ter
NM_001042492.2:c.7797dup , LRG_214t2:c.7797dup NP_001035957.1:p.Glu2600Ter
XM_005257983.1:c.7797dup XP_005258040.1:p.Glu2600Ter
XM_005257984.1:c.7734dup XP_005258041.1:p.Glu2579Ter
XM_006721922.1:c.7827dup XP_006721985.1:p.Glu2610Ter
XM_006721923.2:c.7788dup XP_006721986.1:p.Glu2597Ter
XM_006721924.1:c.7827dup XP_006721987.1:p.Glu2610Ter
XM_006721925.1:c.7764dup XP_006721988.1:p.Glu2589Ter
XM_006721926.2:c.7827dup XP_006721989.1:p.Glu2610Ter
XM_006721927.1:c.7827dup XP_006721990.1:p.Glu2610Ter
XM_011524852.1:c.7824dup XP_011523154.1:p.Glu2609Ter
XM_011524853.1:c.7788dup XP_011523155.1:p.Glu2597Ter
XM_011524854.1:c.7788dup XP_011523156.1:p.Glu2597Ter
XM_011524855.1:c.7788dup XP_011523157.1:p.Glu2597Ter
XM_011524856.1:c.7788dup XP_011523158.1:p.Glu2597Ter
XM_011524857.1:c.7704dup XP_011523159.1:p.Glu2569Ter
NM_001042492.3:c.7797dup MANE Select NP_001035957.1:p.Glu2600Ter