Canonical Allele Identifier: CA915949670

Gene: NF1

Linked Data

• ClinVar Variation Id: 818192
• ClinVar RCV Id: RCV001009596
• dbSNP Id: rs1597753208

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265260_31265276del , CM000679.2:g.31265260_31265276del	GRCh38
NC_000017.10:g.29592278_29592294del , CM000679.1:g.29592278_29592294del	GRCh37
NC_000017.9:g.26616404_26616420del	NCBI36
NG_009018.1:g.175284_175300del , LRG_214:g.175284_175300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.558_574del	ENSP00000492721.2:n.558_574del
ENST00000696138.1:c.4738_4754del	ENSP00000512431.1:p.Ala1580TyrfsTer30
ENST00000696140.1:n.862_878del
ENST00000696141.1:c.747_763del
ENST00000687863.1:n.1401_1417del
ENST00000691014.1:c.4786_4802del	ENSP00000510595.1:p.Ala1596TyrfsTer30
ENST00000358273.9:c.4756_4772del MANE Select	ENSP00000351015.4:p.Ala1586TyrfsTer30
ENST00000356175.7:c.4693_4709del	ENSP00000348498.3:p.Ala1565TyrfsTer30
ENST00000358273.8:c.4756_4772del	ENSP00000351015.4:p.Ala1586TyrfsTer30
ENST00000456735.6:c.3691_3707del	ENSP00000389907.2:p.Ala1231TyrfsTer30
ENST00000493220.5:n.3229_3245del
ENST00000579081.5:c.4795_4811del	ENSP00000462408.1:p.Ala1599TyrfsTer?
NM_000267.3:c.4693_4709del , LRG_214t1:c.4693_4709del	NP_000258.1:p.Ala1565TyrfsTer30
NM_001042492.2:c.4756_4772del , LRG_214t2:c.4756_4772del	NP_001035957.1:p.Ala1586TyrfsTer30
XM_005257983.1:c.4756_4772del	XP_005258040.1:p.Ala1586TyrfsTer30
XM_005257984.1:c.4693_4709del	XP_005258041.1:p.Ala1565TyrfsTer30
XM_006721922.1:c.4786_4802del	XP_006721985.1:p.Ala1596TyrfsTer30
XM_006721923.2:c.4747_4763del	XP_006721986.1:p.Ala1583TyrfsTer30
XM_006721924.1:c.4786_4802del	XP_006721987.1:p.Ala1596TyrfsTer30
XM_006721925.1:c.4723_4739del	XP_006721988.1:p.Ala1575TyrfsTer30
XM_006721926.2:c.4786_4802del	XP_006721989.1:p.Ala1596TyrfsTer30
XM_006721927.1:c.4786_4802del	XP_006721990.1:p.Ala1596TyrfsTer30
XM_006721928.2:c.4786_4802del	XP_006721991.1:p.Ala1596TyrfsTer?
XM_011524852.1:c.4783_4799del	XP_011523154.1:p.Ala1595TyrfsTer30
XM_011524853.1:c.4747_4763del	XP_011523155.1:p.Ala1583TyrfsTer30
XM_011524854.1:c.4747_4763del	XP_011523156.1:p.Ala1583TyrfsTer30
XM_011524855.1:c.4747_4763del	XP_011523157.1:p.Ala1583TyrfsTer30
XM_011524856.1:c.4747_4763del	XP_011523158.1:p.Ala1583TyrfsTer30
XM_011524857.1:c.4786_4802del	XP_011523159.1:p.Ala1596TyrfsTer30
NM_001042492.3:c.4756_4772del MANE Select	NP_001035957.1:p.Ala1586TyrfsTer30