Canonical Allele Identifier: CA2695224933

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31325828del , CM000679.2:g.31325828del	GRCh38
NC_000017.10:g.29652846del , CM000679.1:g.29652846del	GRCh37
NC_000017.9:g.26676972del	NCBI36
NG_009018.1:g.235852del , LRG_214:g.235852del

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.1032del	ENSP00000492721.2:n.1032del
ENST00000696138.1:c.4826del	ENSP00000512431.1:p.Thr1609MetfsTer9
ENST00000684826.1:c.-593del	ENSP00000509994.1:n.-593del
ENST00000687027.1:c.-660del	ENSP00000508715.1:n.-660del
ENST00000687863.1:n.1489del
ENST00000691014.1:c.4874del	ENSP00000510595.1:p.Thr1625MetfsTer9
ENST00000693617.1:c.-593del	ENSP00000510031.1:n.-593del
ENST00000358273.9:c.4844del MANE Select	ENSP00000351015.4:p.Thr1615MetfsTer9
ENST00000356175.7:c.4781del	ENSP00000348498.3:p.Thr1594MetfsTer9
ENST00000358273.8:c.4844del	ENSP00000351015.4:p.Thr1615MetfsTer9
ENST00000456735.6:c.3779del	ENSP00000389907.2:p.Thr1260MetfsTer9
ENST00000493220.5:n.3317del
ENST00000579081.5:c.4980del	ENSP00000462408.1:n.4980del
ENST00000581113.6:n.161del
NM_000267.3:c.4781del , LRG_214t1:c.4781del	NP_000258.1:p.Thr1594MetfsTer9
NM_001042492.2:c.4844del , LRG_214t2:c.4844del	NP_001035957.1:p.Thr1615MetfsTer9
XM_005257983.1:c.4844del	XP_005258040.1:p.Thr1615MetfsTer9
XM_005257984.1:c.4781del	XP_005258041.1:p.Thr1594MetfsTer9
XM_006721922.1:c.4874del	XP_006721985.1:p.Thr1625MetfsTer9
XM_006721923.2:c.4835del	XP_006721986.1:p.Thr1612MetfsTer9
XM_006721924.1:c.4874del	XP_006721987.1:p.Thr1625MetfsTer9
XM_006721925.1:c.4811del	XP_006721988.1:p.Thr1604MetfsTer9
XM_006721926.2:c.4874del	XP_006721989.1:p.Thr1625MetfsTer9
XM_006721927.1:c.4874del	XP_006721990.1:p.Thr1625MetfsTer9
XM_011524852.1:c.4871del	XP_011523154.1:p.Thr1624MetfsTer9
XM_011524853.1:c.4835del	XP_011523155.1:p.Thr1612MetfsTer9
XM_011524854.1:c.4835del	XP_011523156.1:p.Thr1612MetfsTer9
XM_011524855.1:c.4835del	XP_011523157.1:p.Thr1612MetfsTer9
XM_011524856.1:c.4835del	XP_011523158.1:p.Thr1612MetfsTer9
XM_011524857.1:c.4874del	XP_011523159.1:p.Thr1625MetfsTer9
NM_001042492.3:c.4844del MANE Select	NP_001035957.1:p.Thr1615MetfsTer9