Canonical Allele Identifier: CA2255605084

Gene: NF1

Linked Data

• ClinVar Variation Id: 996377
• ClinVar RCV Id: RCV001290781
• dbSNP Id: rs2069867387

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343056del , CM000679.2:g.31343056del	GRCh38
NC_000017.10:g.29670074del , CM000679.1:g.29670074del	GRCh37
NC_000017.9:g.26694200del	NCBI36
NG_009018.1:g.253080del , LRG_214:g.253080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7092del	ENSP00000512431.1:p.Cys2365AlafsTer25
ENST00000684826.1:c.1674del	ENSP00000509994.1:p.Cys559AlafsTer25
ENST00000687027.1:c.1266del	ENSP00000508715.1:p.Cys423AlafsTer25
ENST00000687863.1:n.3755del
ENST00000689464.1:c.49del
ENST00000691014.1:c.7140del	ENSP00000510595.1:p.Cys2381AlafsTer25
ENST00000693617.1:c.1674del	ENSP00000510031.1:p.Cys559AlafsTer25
ENST00000358273.9:c.7110del MANE Select	ENSP00000351015.4:p.Cys2371AlafsTer25
ENST00000356175.7:c.7047del	ENSP00000348498.3:p.Cys2350AlafsTer25
ENST00000358273.8:c.7110del	ENSP00000351015.4:p.Cys2371AlafsTer25
ENST00000456735.6:c.6045del	ENSP00000389907.2:p.Cys2016AlafsTer25
ENST00000471572.6:c.493del
ENST00000579081.5:c.7246del	ENSP00000462408.1:n.7246del
ENST00000581790.5:c.253del
ENST00000582892.1:n.352del
ENST00000584328.1:n.524del
NM_000267.3:c.7047del , LRG_214t1:c.7047del	NP_000258.1:p.Cys2350AlafsTer25
NM_001042492.2:c.7110del , LRG_214t2:c.7110del	NP_001035957.1:p.Cys2371AlafsTer25
XM_005257983.1:c.7110del	XP_005258040.1:p.Cys2371AlafsTer25
XM_005257984.1:c.7047del	XP_005258041.1:p.Cys2350AlafsTer25
XM_006721922.1:c.7140del	XP_006721985.1:p.Cys2381AlafsTer25
XM_006721923.2:c.7101del	XP_006721986.1:p.Cys2368AlafsTer25
XM_006721924.1:c.7140del	XP_006721987.1:p.Cys2381AlafsTer25
XM_006721925.1:c.7077del	XP_006721988.1:p.Cys2360AlafsTer25
XM_006721926.2:c.7140del	XP_006721989.1:p.Cys2381AlafsTer25
XM_006721927.1:c.7140del	XP_006721990.1:p.Cys2381AlafsTer25
XM_011524852.1:c.7137del	XP_011523154.1:p.Cys2380AlafsTer25
XM_011524853.1:c.7101del	XP_011523155.1:p.Cys2368AlafsTer25
XM_011524854.1:c.7101del	XP_011523156.1:p.Cys2368AlafsTer25
XM_011524855.1:c.7101del	XP_011523157.1:p.Cys2368AlafsTer25
XM_011524856.1:c.7101del	XP_011523158.1:p.Cys2368AlafsTer25
XM_011524857.1:c.7140del	XP_011523159.1:p.Cys2381AlafsTer25
NM_001042492.3:c.7110del MANE Select	NP_001035957.1:p.Cys2371AlafsTer25