Canonical Allele Identifier: CA2697559623
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2765038
ClinVar RCV Id: RCV003496599

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338736_31338737del , CM000679.2:g.31338736_31338737del GRCh38
NC_000017.10:g.29665754_29665755del , CM000679.1:g.29665754_29665755del GRCh37
NC_000017.9:g.26689880_26689881del NCBI36
NG_009018.1:g.248760_248761del , LRG_214:g.248760_248761del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.6834_6835del ENSP00000512431.1:p.Tyr2279GlnfsTer21
ENST00000684826.1:c.1416_1417del ENSP00000509994.1:p.Tyr473GlnfsTer21
ENST00000684998.1:n.2674_2675del
ENST00000687027.1:c.1008_1009del ENSP00000508715.1:p.Tyr337GlnfsTer21
ENST00000687863.1:n.3497_3498del
ENST00000691014.1:c.6882_6883del ENSP00000510595.1:p.Tyr2295GlnfsTer21
ENST00000693617.1:c.1416_1417del ENSP00000510031.1:p.Tyr473GlnfsTer21
ENST00000358273.9:c.6852_6853del MANE Select ENSP00000351015.4:p.Tyr2285GlnfsTer21
ENST00000356175.7:c.6789_6790del ENSP00000348498.3:p.Tyr2264GlnfsTer21
ENST00000358273.8:c.6852_6853del ENSP00000351015.4:p.Tyr2285GlnfsTer21
ENST00000456735.6:c.5787_5788del ENSP00000389907.2:p.Tyr1930GlnfsTer21
ENST00000471572.6:c.235_236del
ENST00000579081.5:c.6988_6989del ENSP00000462408.1:n.6988_6989del
ENST00000581790.5:c.64+856_64+857del
ENST00000584328.1:n.266_267del
NM_000267.3:c.6789_6790del , LRG_214t1:c.6789_6790del NP_000258.1:p.Tyr2264GlnfsTer21
NM_001042492.2:c.6852_6853del , LRG_214t2:c.6852_6853del NP_001035957.1:p.Tyr2285GlnfsTer21
XM_005257983.1:c.6852_6853del XP_005258040.1:p.Tyr2285GlnfsTer21
XM_005257984.1:c.6789_6790del XP_005258041.1:p.Tyr2264GlnfsTer21
XM_006721922.1:c.6882_6883del XP_006721985.1:p.Tyr2295GlnfsTer21
XM_006721923.2:c.6843_6844del XP_006721986.1:p.Tyr2282GlnfsTer21
XM_006721924.1:c.6882_6883del XP_006721987.1:p.Tyr2295GlnfsTer21
XM_006721925.1:c.6819_6820del XP_006721988.1:p.Tyr2274GlnfsTer21
XM_006721926.2:c.6882_6883del XP_006721989.1:p.Tyr2295GlnfsTer21
XM_006721927.1:c.6882_6883del XP_006721990.1:p.Tyr2295GlnfsTer21
XM_011524852.1:c.6879_6880del XP_011523154.1:p.Tyr2294GlnfsTer21
XM_011524853.1:c.6843_6844del XP_011523155.1:p.Tyr2282GlnfsTer21
XM_011524854.1:c.6843_6844del XP_011523156.1:p.Tyr2282GlnfsTer21
XM_011524855.1:c.6843_6844del XP_011523157.1:p.Tyr2282GlnfsTer21
XM_011524856.1:c.6843_6844del XP_011523158.1:p.Tyr2282GlnfsTer21
XM_011524857.1:c.6882_6883del XP_011523159.1:p.Tyr2295GlnfsTer21
NM_001042492.3:c.6852_6853del MANE Select NP_001035957.1:p.Tyr2285GlnfsTer21