Canonical Allele Identifier: CA10581295
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 235382
ClinVar RCV Id: RCV000224607
dbSNP Id: rs878853025
MyVariant Identifiers: chr17:g.29665814_29665818del (hg19) chr17:g.31338796_31338800del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338796_31338800del , CM000679.2:g.31338796_31338800del GRCh38
NC_000017.10:g.29665814_29665818del , CM000679.1:g.29665814_29665818del GRCh37
NC_000017.9:g.26689940_26689944del NCBI36
NG_009018.1:g.248820_248824del , LRG_214:g.248820_248824del

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.6894_6898del ENSP00000512431.1:p.Leu2299Ter
ENST00000684826.1:c.1476_1480del ENSP00000509994.1:p.Leu493Ter
ENST00000684998.1:n.2734_2738del
ENST00000687027.1:c.1068_1072del ENSP00000508715.1:p.Leu357Ter
ENST00000687863.1:n.3557_3561del
ENST00000691014.1:c.6942_6946del ENSP00000510595.1:p.Leu2315Ter
ENST00000693617.1:c.1476_1480del ENSP00000510031.1:p.Leu493Ter
ENST00000358273.9:c.6912_6916del MANE Select ENSP00000351015.4:p.Leu2305Ter
ENST00000356175.7:c.6849_6853del ENSP00000348498.3:p.Leu2284Ter
ENST00000358273.8:c.6912_6916del ENSP00000351015.4:p.Leu2305Ter
ENST00000456735.6:c.5847_5851del ENSP00000389907.2:p.Leu1950Ter
ENST00000471572.6:c.295_299del
ENST00000579081.5:c.7048_7052del ENSP00000462408.1:n.7048_7052del
ENST00000581790.5:c.64+916_64+920del
ENST00000584328.1:n.326_330del
NM_000267.3:c.6849_6853del , LRG_214t1:c.6849_6853del NP_000258.1:p.Leu2284Ter
NM_001042492.2:c.6912_6916del , LRG_214t2:c.6912_6916del NP_001035957.1:p.Leu2305Ter
XM_005257983.1:c.6912_6916del XP_005258040.1:p.Leu2305Ter
XM_005257984.1:c.6849_6853del XP_005258041.1:p.Leu2284Ter
XM_006721922.1:c.6942_6946del XP_006721985.1:p.Leu2315Ter
XM_006721923.2:c.6903_6907del XP_006721986.1:p.Leu2302Ter
XM_006721924.1:c.6942_6946del XP_006721987.1:p.Leu2315Ter
XM_006721925.1:c.6879_6883del XP_006721988.1:p.Leu2294Ter
XM_006721926.2:c.6942_6946del XP_006721989.1:p.Leu2315Ter
XM_006721927.1:c.6942_6946del XP_006721990.1:p.Leu2315Ter
XM_011524852.1:c.6939_6943del XP_011523154.1:p.Leu2314Ter
XM_011524853.1:c.6903_6907del XP_011523155.1:p.Leu2302Ter
XM_011524854.1:c.6903_6907del XP_011523156.1:p.Leu2302Ter
XM_011524855.1:c.6903_6907del XP_011523157.1:p.Leu2302Ter
XM_011524856.1:c.6903_6907del XP_011523158.1:p.Leu2302Ter
XM_011524857.1:c.6942_6946del XP_011523159.1:p.Leu2315Ter
NM_001042492.3:c.6912_6916del MANE Select NP_001035957.1:p.Leu2305Ter
Search 100 bp 5'
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