Canonical Allele Identifier: CA16620377
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421434
ClinVar RCV Id: RCV000484718
dbSNP Id: rs1064795136
MyVariant Identifiers: chr17:g.29684011del (hg19) chr17:g.31356993del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31356993del , CM000679.2:g.31356993del GRCh38
NC_000017.10:g.29684011del , CM000679.1:g.29684011del GRCh37
NC_000017.9:g.26708137del NCBI36
NG_009018.1:g.267017del , LRG_214:g.267017del

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.7754del ENSP00000512431.1:p.Pro2585HisfsTer?
ENST00000684826.1:c.2336del ENSP00000509994.1:p.Pro779HisfsTer?
ENST00000687027.1:c.1928del ENSP00000508715.1:p.Pro643HisfsTer?
ENST00000687863.1:n.4417del
ENST00000689464.1:c.822del
ENST00000691014.1:c.7802del ENSP00000510595.1:p.Pro2601HisfsTer?
ENST00000693617.1:c.2336del ENSP00000510031.1:p.Pro779HisfsTer?
ENST00000358273.9:c.7772del MANE Select ENSP00000351015.4:p.Pro2591HisfsTer?
ENST00000356175.7:c.7709del ENSP00000348498.3:p.Pro2570HisfsTer?
ENST00000358273.8:c.7772del ENSP00000351015.4:p.Pro2591HisfsTer?
ENST00000456735.6:c.6707del ENSP00000389907.2:p.Pro2236HisfsTer?
ENST00000471572.6:c.1155del
ENST00000577967.1:n.1190del
ENST00000579081.5:c.7908del ENSP00000462408.1:n.7908del
ENST00000581790.5:c.757del
NM_000267.3:c.7709del , LRG_214t1:c.7709del NP_000258.1:p.Pro2570HisfsTer?
NM_001042492.2:c.7772del , LRG_214t2:c.7772del NP_001035957.1:p.Pro2591HisfsTer?
XM_005257983.1:c.7772del XP_005258040.1:p.Pro2591HisfsTer?
XM_005257984.1:c.7709del XP_005258041.1:p.Pro2570HisfsTer?
XM_006721922.1:c.7802del XP_006721985.1:p.Pro2601HisfsTer?
XM_006721923.2:c.7763del XP_006721986.1:p.Pro2588HisfsTer?
XM_006721924.1:c.7802del XP_006721987.1:p.Pro2601HisfsTer?
XM_006721925.1:c.7739del XP_006721988.1:p.Pro2580HisfsTer?
XM_006721926.2:c.7802del XP_006721989.1:p.Pro2601HisfsTer?
XM_006721927.1:c.7802del XP_006721990.1:p.Pro2601HisfsTer?
XM_011524852.1:c.7799del XP_011523154.1:p.Pro2600HisfsTer?
XM_011524853.1:c.7763del XP_011523155.1:p.Pro2588HisfsTer?
XM_011524854.1:c.7763del XP_011523156.1:p.Pro2588HisfsTer?
XM_011524855.1:c.7763del XP_011523157.1:p.Pro2588HisfsTer?
XM_011524856.1:c.7763del XP_011523158.1:p.Pro2588HisfsTer?
XM_011524857.1:c.7679del XP_011523159.1:p.Pro2560HisfsTer?
NM_001042492.3:c.7772del MANE Select NP_001035957.1:p.Pro2591HisfsTer?
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