Canonical Allele Identifier: CA2695225162

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338031del , CM000679.2:g.31338031del	GRCh38
NC_000017.10:g.29665049del , CM000679.1:g.29665049del	GRCh37
NC_000017.9:g.26689175del	NCBI36
NG_009018.1:g.248055del , LRG_214:g.248055del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6693del	ENSP00000512431.1:p.Phe2232SerfsTer27
ENST00000684826.1:c.1275del	ENSP00000509994.1:p.Phe426SerfsTer27
ENST00000684998.1:n.1969del
ENST00000687027.1:c.867del	ENSP00000508715.1:p.Phe290SerfsTer27
ENST00000687863.1:n.3356del
ENST00000691014.1:c.6741del	ENSP00000510595.1:p.Phe2248SerfsTer27
ENST00000693617.1:c.1275del	ENSP00000510031.1:p.Phe426SerfsTer27
ENST00000358273.9:c.6711del MANE Select	ENSP00000351015.4:p.Phe2238SerfsTer27
ENST00000356175.7:c.6648del	ENSP00000348498.3:p.Phe2217SerfsTer27
ENST00000358273.8:c.6711del	ENSP00000351015.4:p.Phe2238SerfsTer27
ENST00000456735.6:c.5646del	ENSP00000389907.2:p.Phe1883SerfsTer27
ENST00000471572.6:c.94del
ENST00000579081.5:c.6847del	ENSP00000462408.1:n.6847del
ENST00000581790.5:c.64+151del
ENST00000584328.1:n.125del
NM_000267.3:c.6648del , LRG_214t1:c.6648del	NP_000258.1:p.Phe2217SerfsTer27
NM_001042492.2:c.6711del , LRG_214t2:c.6711del	NP_001035957.1:p.Phe2238SerfsTer27
XM_005257983.1:c.6711del	XP_005258040.1:p.Phe2238SerfsTer27
XM_005257984.1:c.6648del	XP_005258041.1:p.Phe2217SerfsTer27
XM_006721922.1:c.6741del	XP_006721985.1:p.Phe2248SerfsTer27
XM_006721923.2:c.6702del	XP_006721986.1:p.Phe2235SerfsTer27
XM_006721924.1:c.6741del	XP_006721987.1:p.Phe2248SerfsTer27
XM_006721925.1:c.6678del	XP_006721988.1:p.Phe2227SerfsTer27
XM_006721926.2:c.6741del	XP_006721989.1:p.Phe2248SerfsTer27
XM_006721927.1:c.6741del	XP_006721990.1:p.Phe2248SerfsTer27
XM_011524852.1:c.6738del	XP_011523154.1:p.Phe2247SerfsTer27
XM_011524853.1:c.6702del	XP_011523155.1:p.Phe2235SerfsTer27
XM_011524854.1:c.6702del	XP_011523156.1:p.Phe2235SerfsTer27
XM_011524855.1:c.6702del	XP_011523157.1:p.Phe2235SerfsTer27
XM_011524856.1:c.6702del	XP_011523158.1:p.Phe2235SerfsTer27
XM_011524857.1:c.6741del	XP_011523159.1:p.Phe2248SerfsTer27
NM_001042492.3:c.6711del MANE Select	NP_001035957.1:p.Phe2238SerfsTer27