Canonical Allele Identifier: CA499234184

Gene: NF1

Linked Data

• COSMIC: COSM24871
• MyVariant Identifiers: chr17:g.29592328del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265310del , CM000679.2:g.31265310del	GRCh38
NC_000017.10:g.29592328del , CM000679.1:g.29592328del	GRCh37
NC_000017.9:g.26616454del	NCBI36
NG_009018.1:g.175334del , LRG_214:g.175334del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.608del	ENSP00000492721.2:n.608del
ENST00000696138.1:c.4788del	ENSP00000512431.1:p.Asn1597IlefsTer21
ENST00000696140.1:n.912del
ENST00000696141.1:c.797del
ENST00000687863.1:n.1451del
ENST00000691014.1:c.4836del	ENSP00000510595.1:p.Asn1613IlefsTer21
ENST00000358273.9:c.4806del MANE Select	ENSP00000351015.4:p.Asn1603IlefsTer21
ENST00000356175.7:c.4743del	ENSP00000348498.3:p.Asn1582IlefsTer21
ENST00000358273.8:c.4806del	ENSP00000351015.4:p.Asn1603IlefsTer21
ENST00000456735.6:c.3741del	ENSP00000389907.2:p.Asn1248IlefsTer21
ENST00000493220.5:n.3279del
ENST00000579081.5:c.4845del	ENSP00000462408.1:p.Asn1616IlefsTer17
NM_000267.3:c.4743del , LRG_214t1:c.4743del	NP_000258.1:p.Asn1582IlefsTer21
NM_001042492.2:c.4806del , LRG_214t2:c.4806del	NP_001035957.1:p.Asn1603IlefsTer21
XM_005257983.1:c.4806del	XP_005258040.1:p.Asn1603IlefsTer21
XM_005257984.1:c.4743del	XP_005258041.1:p.Asn1582IlefsTer21
XM_006721922.1:c.4836del	XP_006721985.1:p.Asn1613IlefsTer21
XM_006721923.2:c.4797del	XP_006721986.1:p.Asn1600IlefsTer21
XM_006721924.1:c.4836del	XP_006721987.1:p.Asn1613IlefsTer21
XM_006721925.1:c.4773del	XP_006721988.1:p.Asn1592IlefsTer21
XM_006721926.2:c.4836del	XP_006721989.1:p.Asn1613IlefsTer21
XM_006721927.1:c.4836del	XP_006721990.1:p.Asn1613IlefsTer21
XM_006721928.2:c.4836del	XP_006721991.1:p.Asn1613IlefsTer?
XM_011524852.1:c.4833del	XP_011523154.1:p.Asn1612IlefsTer21
XM_011524853.1:c.4797del	XP_011523155.1:p.Asn1600IlefsTer21
XM_011524854.1:c.4797del	XP_011523156.1:p.Asn1600IlefsTer21
XM_011524855.1:c.4797del	XP_011523157.1:p.Asn1600IlefsTer21
XM_011524856.1:c.4797del	XP_011523158.1:p.Asn1600IlefsTer21
XM_011524857.1:c.4836del	XP_011523159.1:p.Asn1613IlefsTer21
NM_001042492.3:c.4806del MANE Select	NP_001035957.1:p.Asn1603IlefsTer21