Canonical Allele Identifier: CA645293902
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426216
ClinVar RCV Id: RCV000489937 RCV001290811
dbSNP Id: rs1085307506
MyVariant Identifiers: chr17:g.29676267_29676269del (hg19) chr17:g.31349249_31349251del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31349249_31349251del , CM000679.2:g.31349249_31349251del GRCh38
NC_000017.10:g.29676267_29676269del , CM000679.1:g.29676267_29676269del GRCh37
NC_000017.9:g.26700393_26700395del NCBI36
NG_009018.1:g.259273_259275del , LRG_214:g.259273_259275del

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.7301_7303del ENSP00000512431.1:p.Ala2435del
ENST00000684826.1:c.1883_1885del ENSP00000509994.1:p.Ala629del
ENST00000687027.1:c.1475_1477del ENSP00000508715.1:p.Ala493del
ENST00000687863.1:n.3964_3966del
ENST00000689464.1:c.369_371del
ENST00000691014.1:c.7349_7351del ENSP00000510595.1:p.Ala2451del
ENST00000693617.1:c.1883_1885del ENSP00000510031.1:p.Ala629del
ENST00000358273.9:c.7319_7321del MANE Select ENSP00000351015.4:p.Ala2441del
ENST00000356175.7:c.7256_7258del ENSP00000348498.3:p.Ala2420del
ENST00000358273.8:c.7319_7321del ENSP00000351015.4:p.Ala2441del
ENST00000456735.6:c.6254_6256del ENSP00000389907.2:p.Ala2086del
ENST00000471572.6:c.702_704del
ENST00000579081.5:c.7455_7457del ENSP00000462408.1:n.7455_7457del
ENST00000581790.5:c.462_464del
NM_000267.3:c.7256_7258del , LRG_214t1:c.7256_7258del NP_000258.1:p.Ala2420del
NM_001042492.2:c.7319_7321del , LRG_214t2:c.7319_7321del NP_001035957.1:p.Ala2441del
XM_005257983.1:c.7319_7321del XP_005258040.1:p.Ala2441del
XM_005257984.1:c.7256_7258del XP_005258041.1:p.Ala2420del
XM_006721922.1:c.7349_7351del XP_006721985.1:p.Ala2451del
XM_006721923.2:c.7310_7312del XP_006721986.1:p.Ala2438del
XM_006721924.1:c.7349_7351del XP_006721987.1:p.Ala2451del
XM_006721925.1:c.7286_7288del XP_006721988.1:p.Ala2430del
XM_006721926.2:c.7349_7351del XP_006721989.1:p.Ala2451del
XM_006721927.1:c.7349_7351del XP_006721990.1:p.Ala2451del
XM_011524852.1:c.7346_7348del XP_011523154.1:p.Ala2450del
XM_011524853.1:c.7310_7312del XP_011523155.1:p.Ala2438del
XM_011524854.1:c.7310_7312del XP_011523156.1:p.Ala2438del
XM_011524855.1:c.7310_7312del XP_011523157.1:p.Ala2438del
XM_011524856.1:c.7310_7312del XP_011523158.1:p.Ala2438del
XM_011524857.1:c.7349_7351del XP_011523159.1:p.Ala2451del
NM_001042492.3:c.7319_7321del MANE Select NP_001035957.1:p.Ala2441del
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