Canonical Allele Identifier: CA2697559610

Gene: NF1

Linked Data

• ClinVar Variation Id: 2747620
• ClinVar RCV Id: RCV003495569

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338085_31338086del , CM000679.2:g.31338085_31338086del	GRCh38
NC_000017.10:g.29665103_29665104del , CM000679.1:g.29665103_29665104del	GRCh37
NC_000017.9:g.26689229_26689230del	NCBI36
NG_009018.1:g.248109_248110del , LRG_214:g.248109_248110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6747_6748del	ENSP00000512431.1:p.Ile2249MetfsTer17
ENST00000684826.1:c.1329_1330del	ENSP00000509994.1:p.Ile443MetfsTer17
ENST00000684998.1:n.2023_2024del
ENST00000687027.1:c.921_922del	ENSP00000508715.1:p.Ile307MetfsTer17
ENST00000687863.1:n.3410_3411del
ENST00000691014.1:c.6795_6796del	ENSP00000510595.1:p.Ile2265MetfsTer17
ENST00000693617.1:c.1329_1330del	ENSP00000510031.1:p.Ile443MetfsTer17
ENST00000358273.9:c.6765_6766del MANE Select	ENSP00000351015.4:p.Ile2255MetfsTer17
ENST00000356175.7:c.6702_6703del	ENSP00000348498.3:p.Ile2234MetfsTer17
ENST00000358273.8:c.6765_6766del	ENSP00000351015.4:p.Ile2255MetfsTer17
ENST00000456735.6:c.5700_5701del	ENSP00000389907.2:p.Ile1900MetfsTer17
ENST00000471572.6:c.148_149del
ENST00000579081.5:c.6901_6902del	ENSP00000462408.1:n.6901_6902del
ENST00000581790.5:c.64+205_64+206del
ENST00000584328.1:n.179_180del
NM_000267.3:c.6702_6703del , LRG_214t1:c.6702_6703del	NP_000258.1:p.Ile2234MetfsTer17
NM_001042492.2:c.6765_6766del , LRG_214t2:c.6765_6766del	NP_001035957.1:p.Ile2255MetfsTer17
XM_005257983.1:c.6765_6766del	XP_005258040.1:p.Ile2255MetfsTer17
XM_005257984.1:c.6702_6703del	XP_005258041.1:p.Ile2234MetfsTer17
XM_006721922.1:c.6795_6796del	XP_006721985.1:p.Ile2265MetfsTer17
XM_006721923.2:c.6756_6757del	XP_006721986.1:p.Ile2252MetfsTer17
XM_006721924.1:c.6795_6796del	XP_006721987.1:p.Ile2265MetfsTer17
XM_006721925.1:c.6732_6733del	XP_006721988.1:p.Ile2244MetfsTer17
XM_006721926.2:c.6795_6796del	XP_006721989.1:p.Ile2265MetfsTer17
XM_006721927.1:c.6795_6796del	XP_006721990.1:p.Ile2265MetfsTer17
XM_011524852.1:c.6792_6793del	XP_011523154.1:p.Ile2264MetfsTer17
XM_011524853.1:c.6756_6757del	XP_011523155.1:p.Ile2252MetfsTer17
XM_011524854.1:c.6756_6757del	XP_011523156.1:p.Ile2252MetfsTer17
XM_011524855.1:c.6756_6757del	XP_011523157.1:p.Ile2252MetfsTer17
XM_011524856.1:c.6756_6757del	XP_011523158.1:p.Ile2252MetfsTer17
XM_011524857.1:c.6795_6796del	XP_011523159.1:p.Ile2265MetfsTer17
NM_001042492.3:c.6765_6766del MANE Select	NP_001035957.1:p.Ile2255MetfsTer17