Canonical Allele Identifier: CA10580259
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 229804
ClinVar RCV Id: RCV000218184
dbSNP Id: rs876658207

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31229204_31229207del , CM000679.2:g.31229204_31229207del GRCh38
NC_000017.10:g.29556222_29556225del , CM000679.1:g.29556222_29556225del GRCh37
NC_000017.9:g.26580348_26580351del NCBI36
NG_009018.1:g.139228_139231del , LRG_214:g.139228_139231del

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.2634_2637del ENSP00000512431.1:p.Ser879HisfsTer13
ENST00000691014.1:c.2619_2622del ENSP00000510595.1:p.Ser874HisfsTer13
ENST00000358273.9:c.2589_2592del MANE Select ENSP00000351015.4:p.Ser864HisfsTer13
ENST00000356175.7:c.2589_2592del ENSP00000348498.3:p.Ser864HisfsTer13
ENST00000358273.8:c.2589_2592del ENSP00000351015.4:p.Ser864HisfsTer13
ENST00000456735.6:c.1587_1590del ENSP00000389907.2:p.Ser530HisfsTer13
ENST00000493220.5:n.756_759del
ENST00000495910.6:c.2364_2367del
ENST00000579081.5:c.2691_2694del ENSP00000462408.1:p.Ser898HisfsTer13
NM_000267.3:c.2589_2592del , LRG_214t1:c.2589_2592del NP_000258.1:p.Ser864HisfsTer13
NM_001042492.2:c.2589_2592del , LRG_214t2:c.2589_2592del NP_001035957.1:p.Ser864HisfsTer13
XM_005257983.1:c.2589_2592del XP_005258040.1:p.Ser864HisfsTer13
XM_005257984.1:c.2589_2592del XP_005258041.1:p.Ser864HisfsTer13
XM_006721922.1:c.2619_2622del XP_006721985.1:p.Ser874HisfsTer13
XM_006721923.2:c.2580_2583del XP_006721986.1:p.Ser861HisfsTer13
XM_006721924.1:c.2619_2622del XP_006721987.1:p.Ser874HisfsTer13
XM_006721925.1:c.2619_2622del XP_006721988.1:p.Ser874HisfsTer13
XM_006721926.2:c.2619_2622del XP_006721989.1:p.Ser874HisfsTer13
XM_006721927.1:c.2619_2622del XP_006721990.1:p.Ser874HisfsTer13
XM_006721928.2:c.2619_2622del XP_006721991.1:p.Ser874HisfsTer13
XM_011524852.1:c.2616_2619del XP_011523154.1:p.Ser873HisfsTer13
XM_011524853.1:c.2580_2583del XP_011523155.1:p.Ser861HisfsTer13
XM_011524854.1:c.2580_2583del XP_011523156.1:p.Ser861HisfsTer13
XM_011524855.1:c.2580_2583del XP_011523157.1:p.Ser861HisfsTer13
XM_011524856.1:c.2580_2583del XP_011523158.1:p.Ser861HisfsTer13
XM_011524857.1:c.2619_2622del XP_011523159.1:p.Ser874HisfsTer13
NM_001042492.3:c.2589_2592del MANE Select NP_001035957.1:p.Ser864HisfsTer13