Canonical Allele Identifier: CA2695225444

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343026del , CM000679.2:g.31343026del	GRCh38
NC_000017.10:g.29670044del , CM000679.1:g.29670044del	GRCh37
NC_000017.9:g.26694170del	NCBI36
NG_009018.1:g.253050del , LRG_214:g.253050del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7062del	ENSP00000512431.1:p.Phe2354LeufsTer?
ENST00000684826.1:c.1644del	ENSP00000509994.1:p.Phe548LeufsTer?
ENST00000687027.1:c.1236del	ENSP00000508715.1:p.Phe412LeufsTer?
ENST00000687863.1:n.3725del
ENST00000689464.1:c.19del
ENST00000691014.1:c.7110del	ENSP00000510595.1:p.Phe2370LeufsTer?
ENST00000693617.1:c.1644del	ENSP00000510031.1:p.Phe548LeufsTer?
ENST00000358273.9:c.7080del MANE Select	ENSP00000351015.4:p.Phe2360LeufsTer?
ENST00000356175.7:c.7017del	ENSP00000348498.3:p.Phe2339LeufsTer?
ENST00000358273.8:c.7080del	ENSP00000351015.4:p.Phe2360LeufsTer?
ENST00000456735.6:c.6015del	ENSP00000389907.2:p.Phe2005LeufsTer?
ENST00000471572.6:c.463del
ENST00000579081.5:c.7216del	ENSP00000462408.1:n.7216del
ENST00000581790.5:c.223del
ENST00000582892.1:n.322del
ENST00000584328.1:n.494del
NM_000267.3:c.7017del , LRG_214t1:c.7017del	NP_000258.1:p.Phe2339LeufsTer?
NM_001042492.2:c.7080del , LRG_214t2:c.7080del	NP_001035957.1:p.Phe2360LeufsTer?
XM_005257983.1:c.7080del	XP_005258040.1:p.Phe2360LeufsTer?
XM_005257984.1:c.7017del	XP_005258041.1:p.Phe2339LeufsTer?
XM_006721922.1:c.7110del	XP_006721985.1:p.Phe2370LeufsTer?
XM_006721923.2:c.7071del	XP_006721986.1:p.Phe2357LeufsTer?
XM_006721924.1:c.7110del	XP_006721987.1:p.Phe2370LeufsTer?
XM_006721925.1:c.7047del	XP_006721988.1:p.Phe2349LeufsTer?
XM_006721926.2:c.7110del	XP_006721989.1:p.Phe2370LeufsTer?
XM_006721927.1:c.7110del	XP_006721990.1:p.Phe2370LeufsTer?
XM_011524852.1:c.7107del	XP_011523154.1:p.Phe2369LeufsTer?
XM_011524853.1:c.7071del	XP_011523155.1:p.Phe2357LeufsTer?
XM_011524854.1:c.7071del	XP_011523156.1:p.Phe2357LeufsTer?
XM_011524855.1:c.7071del	XP_011523157.1:p.Phe2357LeufsTer?
XM_011524856.1:c.7071del	XP_011523158.1:p.Phe2357LeufsTer?
XM_011524857.1:c.7110del	XP_011523159.1:p.Phe2370LeufsTer?
NM_001042492.3:c.7080del MANE Select	NP_001035957.1:p.Phe2360LeufsTer?