Canonical Allele Identifier: CA10583528
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237600
ClinVar RCV Id: RCV000231767
dbSNP Id: rs878853918
MyVariant Identifiers: chr17:g.29684348dupC (hg19) chr17:g.31357330dupC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31357330dup , CM000679.2:g.31357330dup GRCh38
NC_000017.10:g.29684348dup , CM000679.1:g.29684348dup GRCh37
NC_000017.9:g.26708474dup NCBI36
NG_009018.1:g.267354dup , LRG_214:g.267354dup

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.7913dup ENSP00000512431.1:p.Glu2639ArgfsTer15
ENST00000684826.1:c.2495dup ENSP00000509994.1:p.Glu833ArgfsTer15
ENST00000687027.1:c.2087dup ENSP00000508715.1:p.Glu697ArgfsTer15
ENST00000687863.1:n.4576dup
ENST00000689464.1:c.981dup
ENST00000691014.1:c.7961dup ENSP00000510595.1:p.Glu2655ArgfsTer15
ENST00000693617.1:c.2495dup ENSP00000510031.1:p.Glu833ArgfsTer15
ENST00000358273.9:c.7931dup MANE Select ENSP00000351015.4:p.Glu2645ArgfsTer15
ENST00000356175.7:c.7868dup ENSP00000348498.3:p.Glu2624ArgfsTer15
ENST00000358273.8:c.7931dup ENSP00000351015.4:p.Glu2645ArgfsTer15
ENST00000456735.6:c.6866dup ENSP00000389907.2:p.Glu2290ArgfsTer15
ENST00000471572.6:c.1314dup
ENST00000577967.1:n.1527dup
ENST00000579081.5:c.8067dup ENSP00000462408.1:n.8067dup
ENST00000581790.5:c.916dup
NM_000267.3:c.7868dup , LRG_214t1:c.7868dup NP_000258.1:p.Glu2624ArgfsTer15
NM_001042492.2:c.7931dup , LRG_214t2:c.7931dup NP_001035957.1:p.Glu2645ArgfsTer15
XM_005257983.1:c.7931dup XP_005258040.1:p.Glu2645ArgfsTer15
XM_005257984.1:c.7868dup XP_005258041.1:p.Glu2624ArgfsTer15
XM_006721922.1:c.7961dup XP_006721985.1:p.Glu2655ArgfsTer15
XM_006721923.2:c.7922dup XP_006721986.1:p.Glu2642ArgfsTer15
XM_006721924.1:c.7961dup XP_006721987.1:p.Glu2655ArgfsTer15
XM_006721925.1:c.7898dup XP_006721988.1:p.Glu2634ArgfsTer15
XM_006721926.2:c.7961dup XP_006721989.1:p.Glu2655ArgfsTer15
XM_006721927.1:c.7961dup XP_006721990.1:p.Glu2655ArgfsTer15
XM_011524852.1:c.7958dup XP_011523154.1:p.Glu2654ArgfsTer15
XM_011524853.1:c.7922dup XP_011523155.1:p.Glu2642ArgfsTer15
XM_011524854.1:c.7922dup XP_011523156.1:p.Glu2642ArgfsTer15
XM_011524855.1:c.7922dup XP_011523157.1:p.Glu2642ArgfsTer15
XM_011524856.1:c.7922dup XP_011523158.1:p.Glu2642ArgfsTer15
XM_011524857.1:c.7838dup XP_011523159.1:p.Glu2614ArgfsTer15
NM_001042492.3:c.7931dup MANE Select NP_001035957.1:p.Glu2645ArgfsTer15
Search 100 bp 5'
Search 100 bp 3'