Canonical Allele Identifier: CA16615275
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 404568
ClinVar RCV Id: RCV000477528
dbSNP Id: rs1060500353
MyVariant Identifiers: chr17:g.29657403del (hg19) chr17:g.31330385del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31330385del , CM000679.2:g.31330385del GRCh38
NC_000017.10:g.29657403del , CM000679.1:g.29657403del GRCh37
NC_000017.9:g.26681529del NCBI36
NG_009018.1:g.240409del , LRG_214:g.240409del

Transcript Alleles

HGVS Amino-acid change
ENST00000581113.7:c.1887del ENSP00000492721.2:n.1887del
ENST00000696138.1:c.5681del ENSP00000512431.1:p.Ile1894ThrfsTer25
ENST00000684826.1:c.263del ENSP00000509994.1:p.Ile88ThrfsTer25
ENST00000687027.1:c.-146del ENSP00000508715.1:n.-146del
ENST00000687863.1:n.2344del
ENST00000691014.1:c.5729del ENSP00000510595.1:p.Ile1910ThrfsTer25
ENST00000693617.1:c.263del ENSP00000510031.1:p.Ile88ThrfsTer25
ENST00000358273.9:c.5699del MANE Select ENSP00000351015.4:p.Ile1900ThrfsTer25
ENST00000356175.7:c.5636del ENSP00000348498.3:p.Ile1879ThrfsTer25
ENST00000358273.8:c.5699del ENSP00000351015.4:p.Ile1900ThrfsTer25
ENST00000456735.6:c.4634del ENSP00000389907.2:p.Ile1545ThrfsTer25
ENST00000479536.2:c.57del
ENST00000493220.5:n.4172del
ENST00000579081.5:c.5835del ENSP00000462408.1:n.5835del
ENST00000581113.6:n.1016del
NM_000267.3:c.5636del , LRG_214t1:c.5636del NP_000258.1:p.Ile1879ThrfsTer25
NM_001042492.2:c.5699del , LRG_214t2:c.5699del NP_001035957.1:p.Ile1900ThrfsTer25
XM_005257983.1:c.5699del XP_005258040.1:p.Ile1900ThrfsTer25
XM_005257984.1:c.5636del XP_005258041.1:p.Ile1879ThrfsTer25
XM_006721922.1:c.5729del XP_006721985.1:p.Ile1910ThrfsTer25
XM_006721923.2:c.5690del XP_006721986.1:p.Ile1897ThrfsTer25
XM_006721924.1:c.5729del XP_006721987.1:p.Ile1910ThrfsTer25
XM_006721925.1:c.5666del XP_006721988.1:p.Ile1889ThrfsTer25
XM_006721926.2:c.5729del XP_006721989.1:p.Ile1910ThrfsTer25
XM_006721927.1:c.5729del XP_006721990.1:p.Ile1910ThrfsTer25
XM_011524852.1:c.5726del XP_011523154.1:p.Ile1909ThrfsTer25
XM_011524853.1:c.5690del XP_011523155.1:p.Ile1897ThrfsTer25
XM_011524854.1:c.5690del XP_011523156.1:p.Ile1897ThrfsTer25
XM_011524855.1:c.5690del XP_011523157.1:p.Ile1897ThrfsTer25
XM_011524856.1:c.5690del XP_011523158.1:p.Ile1897ThrfsTer25
XM_011524857.1:c.5729del XP_011523159.1:p.Ile1910ThrfsTer25
NM_001042492.3:c.5699del MANE Select NP_001035957.1:p.Ile1900ThrfsTer25
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