Canonical Allele Identifier: CA645571247

Gene: NF1

Linked Data

• COSMIC: COSM41806

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31223446_31223449del , CM000679.2:g.31223446_31223449del	GRCh38
NC_000017.10:g.29550464_29550467del , CM000679.1:g.29550464_29550467del	GRCh37
NC_000017.9:g.26574590_26574593del	NCBI36
NG_009018.1:g.133470_133473del , LRG_214:g.133470_133473del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.1769_1772del	ENSP00000512431.1:p.Ser590Ter
ENST00000691014.1:c.1754_1757del	ENSP00000510595.1:p.Ser585Ter
ENST00000358273.9:c.1724_1727del MANE Select	ENSP00000351015.4:p.Ser575Ter
ENST00000356175.7:c.1724_1727del	ENSP00000348498.3:p.Ser575Ter
ENST00000358273.8:c.1724_1727del	ENSP00000351015.4:p.Ser575Ter
ENST00000456735.6:c.722_725del	ENSP00000389907.2:p.Ser241Ter
ENST00000495910.6:c.1499_1502del
ENST00000579081.5:c.1826_1829del	ENSP00000462408.1:p.Ser609Ter
NM_000267.3:c.1724_1727del , LRG_214t1:c.1724_1727del	NP_000258.1:p.Ser575Ter
NM_001042492.2:c.1724_1727del , LRG_214t2:c.1724_1727del	NP_001035957.1:p.Ser575Ter
XM_005257983.1:c.1724_1727del	XP_005258040.1:p.Ser575Ter
XM_005257984.1:c.1724_1727del	XP_005258041.1:p.Ser575Ter
XM_006721922.1:c.1754_1757del	XP_006721985.1:p.Ser585Ter
XM_006721923.2:c.1715_1718del	XP_006721986.1:p.Ser572Ter
XM_006721924.1:c.1754_1757del	XP_006721987.1:p.Ser585Ter
XM_006721925.1:c.1754_1757del	XP_006721988.1:p.Ser585Ter
XM_006721926.2:c.1754_1757del	XP_006721989.1:p.Ser585Ter
XM_006721927.1:c.1754_1757del	XP_006721990.1:p.Ser585Ter
XM_006721928.2:c.1754_1757del	XP_006721991.1:p.Ser585Ter
XM_011524852.1:c.1754_1757del	XP_011523154.1:p.Ser585Ter
XM_011524853.1:c.1715_1718del	XP_011523155.1:p.Ser572Ter
XM_011524854.1:c.1715_1718del	XP_011523156.1:p.Ser572Ter
XM_011524855.1:c.1715_1718del	XP_011523157.1:p.Ser572Ter
XM_011524856.1:c.1715_1718del	XP_011523158.1:p.Ser572Ter
XM_011524857.1:c.1754_1757del	XP_011523159.1:p.Ser585Ter
NM_001042492.3:c.1724_1727del MANE Select	NP_001035957.1:p.Ser575Ter