Canonical Allele Identifier: CA16620372
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421995
ClinVar RCV Id: RCV000481849
dbSNP Id: rs1064795492

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31336837_31336840del , CM000679.2:g.31336837_31336840del GRCh38
NC_000017.10:g.29663855_29663858del , CM000679.1:g.29663855_29663858del GRCh37
NC_000017.9:g.26687981_26687984del NCBI36
NG_009018.1:g.246861_246864del , LRG_214:g.246861_246864del

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.6332_6335del ENSP00000512431.1:p.Ser2111LeufsTer?
ENST00000684826.1:c.914_917del ENSP00000509994.1:p.Ser305LeufsTer?
ENST00000684998.1:n.775_778del
ENST00000687027.1:c.506_509del ENSP00000508715.1:p.Ser169LeufsTer?
ENST00000687863.1:n.2995_2998del
ENST00000691014.1:c.6380_6383del ENSP00000510595.1:p.Ser2127LeufsTer?
ENST00000693617.1:c.914_917del ENSP00000510031.1:p.Ser305LeufsTer?
ENST00000358273.9:c.6350_6353del MANE Select ENSP00000351015.4:p.Ser2117LeufsTer?
ENST00000356175.7:c.6287_6290del ENSP00000348498.3:p.Ser2096LeufsTer?
ENST00000358273.8:c.6350_6353del ENSP00000351015.4:p.Ser2117LeufsTer?
ENST00000456735.6:c.5285_5288del ENSP00000389907.2:p.Ser1762LeufsTer?
ENST00000479536.2:c.775_778del
ENST00000579081.5:c.6486_6489del ENSP00000462408.1:n.6486_6489del
NM_000267.3:c.6287_6290del , LRG_214t1:c.6287_6290del NP_000258.1:p.Ser2096LeufsTer?
NM_001042492.2:c.6350_6353del , LRG_214t2:c.6350_6353del NP_001035957.1:p.Ser2117LeufsTer?
XM_005257983.1:c.6350_6353del XP_005258040.1:p.Ser2117LeufsTer?
XM_005257984.1:c.6287_6290del XP_005258041.1:p.Ser2096LeufsTer?
XM_006721922.1:c.6380_6383del XP_006721985.1:p.Ser2127LeufsTer?
XM_006721923.2:c.6341_6344del XP_006721986.1:p.Ser2114LeufsTer?
XM_006721924.1:c.6380_6383del XP_006721987.1:p.Ser2127LeufsTer?
XM_006721925.1:c.6317_6320del XP_006721988.1:p.Ser2106LeufsTer?
XM_006721926.2:c.6380_6383del XP_006721989.1:p.Ser2127LeufsTer?
XM_006721927.1:c.6380_6383del XP_006721990.1:p.Ser2127LeufsTer?
XM_011524852.1:c.6377_6380del XP_011523154.1:p.Ser2126LeufsTer?
XM_011524853.1:c.6341_6344del XP_011523155.1:p.Ser2114LeufsTer?
XM_011524854.1:c.6341_6344del XP_011523156.1:p.Ser2114LeufsTer?
XM_011524855.1:c.6341_6344del XP_011523157.1:p.Ser2114LeufsTer?
XM_011524856.1:c.6341_6344del XP_011523158.1:p.Ser2114LeufsTer?
XM_011524857.1:c.6380_6383del XP_011523159.1:p.Ser2127LeufsTer?
NM_001042492.3:c.6350_6353del MANE Select NP_001035957.1:p.Ser2117LeufsTer?