Canonical Allele Identifier: CA16615646

Gene: NF1

Linked Data

• ClinVar Variation Id: 404484
• ClinVar RCV Id: RCV000474271
• dbSNP Id: rs1060500292
• MyVariant Identifiers: chr17:g.29588749del (hg19) ; chr17:g.31261731del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261731del , CM000679.2:g.31261731del	GRCh38
NC_000017.10:g.29588749del , CM000679.1:g.29588749del	GRCh37
NC_000017.9:g.26612875del	NCBI36
NG_009018.1:g.171755del , LRG_214:g.171755del

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.400del	ENSP00000492721.2:p.Asp134ThrfsTer4
ENST00000696138.1:c.4580del	ENSP00000512431.1:p.Arg1527AsnfsTer?
ENST00000696140.1:n.704del
ENST00000696141.1:c.589del
ENST00000687863.1:n.1243del
ENST00000691014.1:c.4628del	ENSP00000510595.1:p.Arg1543AsnfsTer?
ENST00000358273.9:c.4598del MANE Select	ENSP00000351015.4:p.Arg1533AsnfsTer?
ENST00000356175.7:c.4535del	ENSP00000348498.3:p.Arg1512AsnfsTer?
ENST00000358273.8:c.4598del	ENSP00000351015.4:p.Arg1533AsnfsTer?
ENST00000456735.6:c.3533del	ENSP00000389907.2:p.Arg1178AsnfsTer?
ENST00000466819.5:c.1114del
ENST00000479614.1:c.1051del
ENST00000493220.5:n.3071del
ENST00000579081.5:c.4637del	ENSP00000462408.1:p.Arg1546AsnfsTer?
NM_000267.3:c.4535del , LRG_214t1:c.4535del	NP_000258.1:p.Arg1512AsnfsTer?
NM_001042492.2:c.4598del , LRG_214t2:c.4598del	NP_001035957.1:p.Arg1533AsnfsTer?
XM_005257983.1:c.4598del	XP_005258040.1:p.Arg1533AsnfsTer?
XM_005257984.1:c.4535del	XP_005258041.1:p.Arg1512AsnfsTer?
XM_006721922.1:c.4628del	XP_006721985.1:p.Arg1543AsnfsTer?
XM_006721923.2:c.4589del	XP_006721986.1:p.Arg1530AsnfsTer?
XM_006721924.1:c.4628del	XP_006721987.1:p.Arg1543AsnfsTer?
XM_006721925.1:c.4565del	XP_006721988.1:p.Arg1522AsnfsTer?
XM_006721926.2:c.4628del	XP_006721989.1:p.Arg1543AsnfsTer?
XM_006721927.1:c.4628del	XP_006721990.1:p.Arg1543AsnfsTer?
XM_006721928.2:c.4628del	XP_006721991.1:p.Arg1543AsnfsTer?
XM_011524852.1:c.4625del	XP_011523154.1:p.Arg1542AsnfsTer?
XM_011524853.1:c.4589del	XP_011523155.1:p.Arg1530AsnfsTer?
XM_011524854.1:c.4589del	XP_011523156.1:p.Arg1530AsnfsTer?
XM_011524855.1:c.4589del	XP_011523157.1:p.Arg1530AsnfsTer?
XM_011524856.1:c.4589del	XP_011523158.1:p.Arg1530AsnfsTer?
XM_011524857.1:c.4628del	XP_011523159.1:p.Arg1543AsnfsTer?
NM_001042492.3:c.4598del MANE Select	NP_001035957.1:p.Arg1533AsnfsTer?