Canonical Allele Identifier: CA2255601802
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31337350_31337351delinsTC , CM000679.2:g.31337350_31337351delinsTC GRCh38
NC_000017.10:g.29664368_29664369delinsTC , CM000679.1:g.29664368_29664369delinsTC GRCh37
NC_000017.9:g.26688494_26688495delinsTC NCBI36
NG_009018.1:g.247374_247375delinsTC , LRG_214:g.247374_247375delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.6410-18_6410-17delinsTC ENSP00000512431.1:n.6410-18_6410-17delins...
ENST00000684826.1:c.992-18_992-17delinsTC ENSP00000509994.1:n.992-18_992-17delinsTC...
ENST00000684998.1:n.1288_1289delinsTC
ENST00000687027.1:c.584-18_584-17delinsTC ENSP00000508715.1:n.584-18_584-17delinsTC...
ENST00000687863.1:n.3073-18_3073-17delinsTC
ENST00000691014.1:c.6458-18_6458-17delinsTC ENSP00000510595.1:n.6458-18_6458-17delins...
ENST00000693617.1:c.992-18_992-17delinsTC ENSP00000510031.1:n.992-18_992-17delinsTC...
ENST00000358273.9:c.6428-18_6428-17delinsTC MANE Select ENSP00000351015.4:n.6428-18_6428-17delins...
ENST00000356175.7:c.6365-18_6365-17delinsTC ENSP00000348498.3:n.6365-18_6365-17delins...
ENST00000358273.8:c.6428-18_6428-17delinsTC ENSP00000351015.4:n.6428-18_6428-17delins...
ENST00000456735.6:c.5363-18_5363-17delinsTC ENSP00000389907.2:n.5363-18_5363-17delins...
ENST00000579081.5:c.6564-18_6564-17delinsTC ENSP00000462408.1:n.6564-18_6564-17delins...
NM_000267.3:c.6365-18_6365-17delinsTC , LRG_214t1:c.6365-18_6365-17delinsTC NP_000258.1:n.6365-18_6365-17delinsTC
NM_001042492.2:c.6428-18_6428-17delinsTC , LRG_214t2:c.6428-18_6428-17delinsTC NP_001035957.1:n.6428-18_6428-17delinsTC
XM_005257983.1:c.6428-18_6428-17delinsTC XP_005258040.1:n.6428-18_6428-17delinsTC
XM_005257984.1:c.6365-18_6365-17delinsTC XP_005258041.1:n.6365-18_6365-17delinsTC
XM_006721922.1:c.6458-18_6458-17delinsTC XP_006721985.1:n.6458-18_6458-17delinsTC
XM_006721923.2:c.6419-18_6419-17delinsTC XP_006721986.1:n.6419-18_6419-17delinsTC
XM_006721924.1:c.6458-18_6458-17delinsTC XP_006721987.1:n.6458-18_6458-17delinsTC
XM_006721925.1:c.6395-18_6395-17delinsTC XP_006721988.1:n.6395-18_6395-17delinsTC
XM_006721926.2:c.6458-18_6458-17delinsTC XP_006721989.1:n.6458-18_6458-17delinsTC
XM_006721927.1:c.6458-18_6458-17delinsTC XP_006721990.1:n.6458-18_6458-17delinsTC
XM_011524852.1:c.6455-18_6455-17delinsTC XP_011523154.1:n.6455-18_6455-17delinsTC
XM_011524853.1:c.6419-18_6419-17delinsTC XP_011523155.1:n.6419-18_6419-17delinsTC
XM_011524854.1:c.6419-18_6419-17delinsTC XP_011523156.1:n.6419-18_6419-17delinsTC
XM_011524855.1:c.6419-18_6419-17delinsTC XP_011523157.1:n.6419-18_6419-17delinsTC
XM_011524856.1:c.6419-18_6419-17delinsTC XP_011523158.1:n.6419-18_6419-17delinsTC
XM_011524857.1:c.6458-18_6458-17delinsTC XP_011523159.1:n.6458-18_6458-17delinsTC
NM_001042492.3:c.6428-18_6428-17delinsTC MANE Select NP_001035957.1:n.6428-18_6428-17delinsTC