Canonical Allele Identifier: CA2499224214

Gene: NF1

Linked Data

• ClinVar Variation Id: 1048673
• ClinVar RCV Id: RCV001353260 ; RCV002368157
• dbSNP Id: rs2151565274

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343117del , CM000679.2:g.31343117del	GRCh38
NC_000017.10:g.29670135del , CM000679.1:g.29670135del	GRCh37
NC_000017.9:g.26694261del	NCBI36
NG_009018.1:g.253141del , LRG_214:g.253141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7153del	ENSP00000512431.1:p.Val2385LeufsTer5
ENST00000684826.1:c.1735del	ENSP00000509994.1:p.Val579LeufsTer5
ENST00000687027.1:c.1327del	ENSP00000508715.1:p.Val443LeufsTer5
ENST00000687863.1:n.3816del
ENST00000689464.1:c.110del
ENST00000691014.1:c.7201del	ENSP00000510595.1:p.Val2401LeufsTer5
ENST00000693617.1:c.1735del	ENSP00000510031.1:p.Val579LeufsTer5
ENST00000358273.9:c.7171del MANE Select	ENSP00000351015.4:p.Val2391LeufsTer5
ENST00000356175.7:c.7108del	ENSP00000348498.3:p.Val2370LeufsTer5
ENST00000358273.8:c.7171del	ENSP00000351015.4:p.Val2391LeufsTer5
ENST00000456735.6:c.6106del	ENSP00000389907.2:p.Val2036LeufsTer5
ENST00000471572.6:c.554del
ENST00000579081.5:c.7307del	ENSP00000462408.1:n.7307del
ENST00000581790.5:c.314del
ENST00000582892.1:n.413del
NM_000267.3:c.7108del , LRG_214t1:c.7108del	NP_000258.1:p.Val2370LeufsTer5
NM_001042492.2:c.7171del , LRG_214t2:c.7171del	NP_001035957.1:p.Val2391LeufsTer5
XM_005257983.1:c.7171del	XP_005258040.1:p.Val2391LeufsTer5
XM_005257984.1:c.7108del	XP_005258041.1:p.Val2370LeufsTer5
XM_006721922.1:c.7201del	XP_006721985.1:p.Val2401LeufsTer5
XM_006721923.2:c.7162del	XP_006721986.1:p.Val2388LeufsTer5
XM_006721924.1:c.7201del	XP_006721987.1:p.Val2401LeufsTer5
XM_006721925.1:c.7138del	XP_006721988.1:p.Val2380LeufsTer5
XM_006721926.2:c.7201del	XP_006721989.1:p.Val2401LeufsTer5
XM_006721927.1:c.7201del	XP_006721990.1:p.Val2401LeufsTer5
XM_011524852.1:c.7198del	XP_011523154.1:p.Val2400LeufsTer5
XM_011524853.1:c.7162del	XP_011523155.1:p.Val2388LeufsTer5
XM_011524854.1:c.7162del	XP_011523156.1:p.Val2388LeufsTer5
XM_011524855.1:c.7162del	XP_011523157.1:p.Val2388LeufsTer5
XM_011524856.1:c.7162del	XP_011523158.1:p.Val2388LeufsTer5
XM_011524857.1:c.7201del	XP_011523159.1:p.Val2401LeufsTer5
NM_001042492.3:c.7171del MANE Select	NP_001035957.1:p.Val2391LeufsTer5