Canonical Allele Identifier: CA2580093301

Gene: NF1

Linked Data

• ClinVar Variation Id: 2019852
• ClinVar RCV Id: RCV002852129

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261776del , CM000679.2:g.31261776del	GRCh38
NC_000017.10:g.29588794del , CM000679.1:g.29588794del	GRCh37
NC_000017.9:g.26612920del	NCBI36
NG_009018.1:g.171800del , LRG_214:g.171800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.445del	ENSP00000492721.2:p.Leu149SerfsTer15
ENST00000696138.1:c.4625del	ENSP00000512431.1:p.Pro1542LeufsTer26
ENST00000696140.1:n.749del
ENST00000696141.1:c.634del
ENST00000687863.1:n.1288del
ENST00000691014.1:c.4673del	ENSP00000510595.1:p.Pro1558LeufsTer26
ENST00000358273.9:c.4643del MANE Select	ENSP00000351015.4:p.Pro1548LeufsTer26
ENST00000356175.7:c.4580del	ENSP00000348498.3:p.Pro1527LeufsTer26
ENST00000358273.8:c.4643del	ENSP00000351015.4:p.Pro1548LeufsTer26
ENST00000456735.6:c.3578del	ENSP00000389907.2:p.Pro1193LeufsTer26
ENST00000466819.5:c.1159del
ENST00000479614.1:c.1096del
ENST00000493220.5:n.3116del
ENST00000579081.5:c.4682del	ENSP00000462408.1:p.Pro1561LeufsTer26
NM_000267.3:c.4580del , LRG_214t1:c.4580del	NP_000258.1:p.Pro1527LeufsTer26
NM_001042492.2:c.4643del , LRG_214t2:c.4643del	NP_001035957.1:p.Pro1548LeufsTer26
XM_005257983.1:c.4643del	XP_005258040.1:p.Pro1548LeufsTer26
XM_005257984.1:c.4580del	XP_005258041.1:p.Pro1527LeufsTer26
XM_006721922.1:c.4673del	XP_006721985.1:p.Pro1558LeufsTer26
XM_006721923.2:c.4634del	XP_006721986.1:p.Pro1545LeufsTer26
XM_006721924.1:c.4673del	XP_006721987.1:p.Pro1558LeufsTer26
XM_006721925.1:c.4610del	XP_006721988.1:p.Pro1537LeufsTer26
XM_006721926.2:c.4673del	XP_006721989.1:p.Pro1558LeufsTer26
XM_006721927.1:c.4673del	XP_006721990.1:p.Pro1558LeufsTer26
XM_006721928.2:c.4673del	XP_006721991.1:p.Pro1558LeufsTer26
XM_011524852.1:c.4670del	XP_011523154.1:p.Pro1557LeufsTer26
XM_011524853.1:c.4634del	XP_011523155.1:p.Pro1545LeufsTer26
XM_011524854.1:c.4634del	XP_011523156.1:p.Pro1545LeufsTer26
XM_011524855.1:c.4634del	XP_011523157.1:p.Pro1545LeufsTer26
XM_011524856.1:c.4634del	XP_011523158.1:p.Pro1545LeufsTer26
XM_011524857.1:c.4673del	XP_011523159.1:p.Pro1558LeufsTer26
NM_001042492.3:c.4643del MANE Select	NP_001035957.1:p.Pro1548LeufsTer26