Canonical Allele Identifier: CA499234340

Gene: NF1

Linked Data

• dbSNP Id: rs2151559183
• COSMIC: COSM1716209 ; COSM1716210
• MyVariant Identifiers: chr17:g.29665754del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338737del , CM000679.2:g.31338737del	GRCh38
NC_000017.10:g.29665755del , CM000679.1:g.29665755del	GRCh37
NC_000017.9:g.26689881del	NCBI36
NG_009018.1:g.248761del , LRG_214:g.248761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6835del	ENSP00000512431.1:p.Tyr2279ThrfsTer6
ENST00000684826.1:c.1417del	ENSP00000509994.1:p.Tyr473ThrfsTer6
ENST00000684998.1:n.2675del
ENST00000687027.1:c.1009del	ENSP00000508715.1:p.Tyr337ThrfsTer6
ENST00000687863.1:n.3498del
ENST00000691014.1:c.6883del	ENSP00000510595.1:p.Tyr2295ThrfsTer6
ENST00000693617.1:c.1417del	ENSP00000510031.1:p.Tyr473ThrfsTer6
ENST00000358273.9:c.6853del MANE Select	ENSP00000351015.4:p.Tyr2285ThrfsTer6
ENST00000356175.7:c.6790del	ENSP00000348498.3:p.Tyr2264ThrfsTer6
ENST00000358273.8:c.6853del	ENSP00000351015.4:p.Tyr2285ThrfsTer6
ENST00000456735.6:c.5788del	ENSP00000389907.2:p.Tyr1930ThrfsTer6
ENST00000471572.6:c.236del
ENST00000579081.5:c.6989del	ENSP00000462408.1:n.6989del
ENST00000581790.5:c.64+857del
ENST00000584328.1:n.267del
NM_000267.3:c.6790del , LRG_214t1:c.6790del	NP_000258.1:p.Tyr2264ThrfsTer6
NM_001042492.2:c.6853del , LRG_214t2:c.6853del	NP_001035957.1:p.Tyr2285ThrfsTer6
XM_005257983.1:c.6853del	XP_005258040.1:p.Tyr2285ThrfsTer6
XM_005257984.1:c.6790del	XP_005258041.1:p.Tyr2264ThrfsTer6
XM_006721922.1:c.6883del	XP_006721985.1:p.Tyr2295ThrfsTer6
XM_006721923.2:c.6844del	XP_006721986.1:p.Tyr2282ThrfsTer6
XM_006721924.1:c.6883del	XP_006721987.1:p.Tyr2295ThrfsTer6
XM_006721925.1:c.6820del	XP_006721988.1:p.Tyr2274ThrfsTer6
XM_006721926.2:c.6883del	XP_006721989.1:p.Tyr2295ThrfsTer6
XM_006721927.1:c.6883del	XP_006721990.1:p.Tyr2295ThrfsTer6
XM_011524852.1:c.6880del	XP_011523154.1:p.Tyr2294ThrfsTer6
XM_011524853.1:c.6844del	XP_011523155.1:p.Tyr2282ThrfsTer6
XM_011524854.1:c.6844del	XP_011523156.1:p.Tyr2282ThrfsTer6
XM_011524855.1:c.6844del	XP_011523157.1:p.Tyr2282ThrfsTer6
XM_011524856.1:c.6844del	XP_011523158.1:p.Tyr2282ThrfsTer6
XM_011524857.1:c.6883del	XP_011523159.1:p.Tyr2295ThrfsTer6
NM_001042492.3:c.6853del MANE Select	NP_001035957.1:p.Tyr2285ThrfsTer6