Canonical Allele Identifier: CA2573153306

Gene: NF1

Linked Data

• ClinVar Variation Id: 1364405
• ClinVar RCV Id: RCV001937446 ; RCV002370394
• dbSNP Id: rs2151451319

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31249000del , CM000679.2:g.31249000del	GRCh38
NC_000017.10:g.29576018del , CM000679.1:g.29576018del	GRCh37
NC_000017.9:g.26600144del	NCBI36
NG_009018.1:g.159024del , LRG_214:g.159024del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.4036del	ENSP00000512431.1:p.Ser1346AlafsTer12
ENST00000696139.1:c.1454del	ENSP00000512432.1:n.1454del
ENST00000696140.1:n.97del
ENST00000687863.1:n.699del
ENST00000691014.1:c.4021del	ENSP00000510595.1:p.Ser1341AlafsTer12
ENST00000358273.9:c.3991del MANE Select	ENSP00000351015.4:p.Ser1331AlafsTer12
ENST00000356175.7:c.3991del	ENSP00000348498.3:p.Ser1331AlafsTer12
ENST00000358273.8:c.3991del	ENSP00000351015.4:p.Ser1331AlafsTer12
ENST00000456735.6:c.2989del	ENSP00000389907.2:p.Ser997AlafsTer12
ENST00000466819.5:c.467del
ENST00000479614.1:c.467del
ENST00000493220.5:n.2527del
ENST00000495910.6:c.3766del
ENST00000579081.5:c.4093del	ENSP00000462408.1:p.Ser1365AlafsTer12
NM_000267.3:c.3991del , LRG_214t1:c.3991del	NP_000258.1:p.Ser1331AlafsTer12
NM_001042492.2:c.3991del , LRG_214t2:c.3991del	NP_001035957.1:p.Ser1331AlafsTer12
XM_005257983.1:c.3991del	XP_005258040.1:p.Ser1331AlafsTer12
XM_005257984.1:c.3991del	XP_005258041.1:p.Ser1331AlafsTer12
XM_006721922.1:c.4021del	XP_006721985.1:p.Ser1341AlafsTer12
XM_006721923.2:c.3982del	XP_006721986.1:p.Ser1328AlafsTer12
XM_006721924.1:c.4021del	XP_006721987.1:p.Ser1341AlafsTer12
XM_006721925.1:c.4021del	XP_006721988.1:p.Ser1341AlafsTer12
XM_006721926.2:c.4021del	XP_006721989.1:p.Ser1341AlafsTer12
XM_006721927.1:c.4021del	XP_006721990.1:p.Ser1341AlafsTer12
XM_006721928.2:c.4021del	XP_006721991.1:p.Ser1341AlafsTer12
XM_011524852.1:c.4018del	XP_011523154.1:p.Ser1340AlafsTer12
XM_011524853.1:c.3982del	XP_011523155.1:p.Ser1328AlafsTer12
XM_011524854.1:c.3982del	XP_011523156.1:p.Ser1328AlafsTer12
XM_011524855.1:c.3982del	XP_011523157.1:p.Ser1328AlafsTer12
XM_011524856.1:c.3982del	XP_011523158.1:p.Ser1328AlafsTer12
XM_011524857.1:c.4021del	XP_011523159.1:p.Ser1341AlafsTer12
NM_001042492.3:c.3991del MANE Select	NP_001035957.1:p.Ser1331AlafsTer12