Canonical Allele Identifier: CA2580093142

Gene: NF1

Linked Data

• ClinVar Variation Id: 2090483
• ClinVar RCV Id: RCV003005866

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338123_31338124del , CM000679.2:g.31338123_31338124del	GRCh38
NC_000017.10:g.29665141_29665142del , CM000679.1:g.29665141_29665142del	GRCh37
NC_000017.9:g.26689267_26689268del	NCBI36
NG_009018.1:g.248147_248148del , LRG_214:g.248147_248148del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6785_6786del	ENSP00000512431.1:p.Ile2262ThrfsTer4
ENST00000684826.1:c.1367_1368del	ENSP00000509994.1:p.Ile456ThrfsTer4
ENST00000684998.1:n.2061_2062del
ENST00000687027.1:c.959_960del	ENSP00000508715.1:p.Ile320ThrfsTer4
ENST00000687863.1:n.3448_3449del
ENST00000691014.1:c.6833_6834del	ENSP00000510595.1:p.Ile2278ThrfsTer4
ENST00000693617.1:c.1367_1368del	ENSP00000510031.1:p.Ile456ThrfsTer4
ENST00000358273.9:c.6803_6804del MANE Select	ENSP00000351015.4:p.Ile2268ThrfsTer4
ENST00000356175.7:c.6740_6741del	ENSP00000348498.3:p.Ile2247ThrfsTer4
ENST00000358273.8:c.6803_6804del	ENSP00000351015.4:p.Ile2268ThrfsTer4
ENST00000456735.6:c.5738_5739del	ENSP00000389907.2:p.Ile1913ThrfsTer4
ENST00000471572.6:c.186_187del
ENST00000579081.5:c.6939_6940del	ENSP00000462408.1:n.6939_6940del
ENST00000581790.5:c.64+243_64+244del
ENST00000584328.1:n.217_218del
NM_000267.3:c.6740_6741del , LRG_214t1:c.6740_6741del	NP_000258.1:p.Ile2247ThrfsTer4
NM_001042492.2:c.6803_6804del , LRG_214t2:c.6803_6804del	NP_001035957.1:p.Ile2268ThrfsTer4
XM_005257983.1:c.6803_6804del	XP_005258040.1:p.Ile2268ThrfsTer4
XM_005257984.1:c.6740_6741del	XP_005258041.1:p.Ile2247ThrfsTer4
XM_006721922.1:c.6833_6834del	XP_006721985.1:p.Ile2278ThrfsTer4
XM_006721923.2:c.6794_6795del	XP_006721986.1:p.Ile2265ThrfsTer4
XM_006721924.1:c.6833_6834del	XP_006721987.1:p.Ile2278ThrfsTer4
XM_006721925.1:c.6770_6771del	XP_006721988.1:p.Ile2257ThrfsTer4
XM_006721926.2:c.6833_6834del	XP_006721989.1:p.Ile2278ThrfsTer4
XM_006721927.1:c.6833_6834del	XP_006721990.1:p.Ile2278ThrfsTer4
XM_011524852.1:c.6830_6831del	XP_011523154.1:p.Ile2277ThrfsTer4
XM_011524853.1:c.6794_6795del	XP_011523155.1:p.Ile2265ThrfsTer4
XM_011524854.1:c.6794_6795del	XP_011523156.1:p.Ile2265ThrfsTer4
XM_011524855.1:c.6794_6795del	XP_011523157.1:p.Ile2265ThrfsTer4
XM_011524856.1:c.6794_6795del	XP_011523158.1:p.Ile2265ThrfsTer4
XM_011524857.1:c.6833_6834del	XP_011523159.1:p.Ile2278ThrfsTer4
NM_001042492.3:c.6803_6804del MANE Select	NP_001035957.1:p.Ile2268ThrfsTer4