Canonical Allele Identifier: CA16615562
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 404549
ClinVar RCV Id: RCV000472491
dbSNP Id: rs1060500338
MyVariant Identifiers: chr17:g.29664445_29664446del (hg19) chr17:g.31337427_31337428del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31337427_31337428del , CM000679.2:g.31337427_31337428del GRCh38
NC_000017.10:g.29664445_29664446del , CM000679.1:g.29664445_29664446del GRCh37
NC_000017.9:g.26688571_26688572del NCBI36
NG_009018.1:g.247451_247452del , LRG_214:g.247451_247452del

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.6469_6470del ENSP00000512431.1:p.Leu2157AlafsTer5
ENST00000684826.1:c.1051_1052del ENSP00000509994.1:p.Leu351AlafsTer5
ENST00000684998.1:n.1365_1366del
ENST00000687027.1:c.643_644del ENSP00000508715.1:p.Leu215AlafsTer5
ENST00000687863.1:n.3132_3133del
ENST00000691014.1:c.6517_6518del ENSP00000510595.1:p.Leu2173AlafsTer5
ENST00000693617.1:c.1051_1052del ENSP00000510031.1:p.Leu351AlafsTer5
ENST00000358273.9:c.6487_6488del MANE Select ENSP00000351015.4:p.Leu2163AlafsTer5
ENST00000356175.7:c.6424_6425del ENSP00000348498.3:p.Leu2142AlafsTer5
ENST00000358273.8:c.6487_6488del ENSP00000351015.4:p.Leu2163AlafsTer5
ENST00000456735.6:c.5422_5423del ENSP00000389907.2:p.Leu1808AlafsTer5
ENST00000579081.5:c.6623_6624del ENSP00000462408.1:n.6623_6624del
NM_000267.3:c.6424_6425del , LRG_214t1:c.6424_6425del NP_000258.1:p.Leu2142AlafsTer5
NM_001042492.2:c.6487_6488del , LRG_214t2:c.6487_6488del NP_001035957.1:p.Leu2163AlafsTer5
XM_005257983.1:c.6487_6488del XP_005258040.1:p.Leu2163AlafsTer5
XM_005257984.1:c.6424_6425del XP_005258041.1:p.Leu2142AlafsTer5
XM_006721922.1:c.6517_6518del XP_006721985.1:p.Leu2173AlafsTer5
XM_006721923.2:c.6478_6479del XP_006721986.1:p.Leu2160AlafsTer5
XM_006721924.1:c.6517_6518del XP_006721987.1:p.Leu2173AlafsTer5
XM_006721925.1:c.6454_6455del XP_006721988.1:p.Leu2152AlafsTer5
XM_006721926.2:c.6517_6518del XP_006721989.1:p.Leu2173AlafsTer5
XM_006721927.1:c.6517_6518del XP_006721990.1:p.Leu2173AlafsTer5
XM_011524852.1:c.6514_6515del XP_011523154.1:p.Leu2172AlafsTer5
XM_011524853.1:c.6478_6479del XP_011523155.1:p.Leu2160AlafsTer5
XM_011524854.1:c.6478_6479del XP_011523156.1:p.Leu2160AlafsTer5
XM_011524855.1:c.6478_6479del XP_011523157.1:p.Leu2160AlafsTer5
XM_011524856.1:c.6478_6479del XP_011523158.1:p.Leu2160AlafsTer5
XM_011524857.1:c.6517_6518del XP_011523159.1:p.Leu2173AlafsTer5
NM_001042492.3:c.6487_6488del MANE Select NP_001035957.1:p.Leu2163AlafsTer5
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