Canonical Allele Identifier: CA16615307
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 404452
ClinVar RCV Id: RCV000459163
dbSNP Id: rs1060500268
MyVariant Identifiers: chr17:g.29664893del (hg19) chr17:g.31337875del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31337875del , CM000679.2:g.31337875del GRCh38
NC_000017.10:g.29664893del , CM000679.1:g.29664893del GRCh37
NC_000017.9:g.26689019del NCBI36
NG_009018.1:g.247899del , LRG_214:g.247899del

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.6681del ENSP00000512431.1:p.Gln2228LysfsTer?
ENST00000684826.1:c.1263del ENSP00000509994.1:p.Gln422LysfsTer?
ENST00000684998.1:n.1813del
ENST00000687027.1:c.855del ENSP00000508715.1:p.Gln286LysfsTer?
ENST00000687863.1:n.3344del
ENST00000691014.1:c.6729del ENSP00000510595.1:p.Gln2244LysfsTer?
ENST00000693617.1:c.1263del ENSP00000510031.1:p.Gln422LysfsTer?
ENST00000358273.9:c.6699del MANE Select ENSP00000351015.4:p.Gln2234LysfsTer?
ENST00000356175.7:c.6636del ENSP00000348498.3:p.Gln2213LysfsTer?
ENST00000358273.8:c.6699del ENSP00000351015.4:p.Gln2234LysfsTer?
ENST00000456735.6:c.5634del ENSP00000389907.2:p.Gln1879LysfsTer?
ENST00000471572.6:c.59del
ENST00000579081.5:c.6835del ENSP00000462408.1:n.6835del
ENST00000581790.5:c.59del
ENST00000584328.1:n.113del
NM_000267.3:c.6636del , LRG_214t1:c.6636del NP_000258.1:p.Gln2213LysfsTer?
NM_001042492.2:c.6699del , LRG_214t2:c.6699del NP_001035957.1:p.Gln2234LysfsTer?
XM_005257983.1:c.6699del XP_005258040.1:p.Gln2234LysfsTer?
XM_005257984.1:c.6636del XP_005258041.1:p.Gln2213LysfsTer?
XM_006721922.1:c.6729del XP_006721985.1:p.Gln2244LysfsTer?
XM_006721923.2:c.6690del XP_006721986.1:p.Gln2231LysfsTer?
XM_006721924.1:c.6729del XP_006721987.1:p.Gln2244LysfsTer?
XM_006721925.1:c.6666del XP_006721988.1:p.Gln2223LysfsTer?
XM_006721926.2:c.6729del XP_006721989.1:p.Gln2244LysfsTer?
XM_006721927.1:c.6729del XP_006721990.1:p.Gln2244LysfsTer?
XM_011524852.1:c.6726del XP_011523154.1:p.Gln2243LysfsTer?
XM_011524853.1:c.6690del XP_011523155.1:p.Gln2231LysfsTer?
XM_011524854.1:c.6690del XP_011523156.1:p.Gln2231LysfsTer?
XM_011524855.1:c.6690del XP_011523157.1:p.Gln2231LysfsTer?
XM_011524856.1:c.6690del XP_011523158.1:p.Gln2231LysfsTer?
XM_011524857.1:c.6729del XP_011523159.1:p.Gln2244LysfsTer?
NM_001042492.3:c.6699del MANE Select NP_001035957.1:p.Gln2234LysfsTer?
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