Canonical Allele Identifier: CA658824768

Gene: NF1

Linked Data

• ClinVar Variation Id: 547649
• ClinVar RCV Id: RCV000660064
• dbSNP Id: rs1555619395
• MyVariant Identifiers: chr17:g.29592266_29592267del (hg19) ; chr17:g.31265248_31265249del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265248_31265249del , CM000679.2:g.31265248_31265249del	GRCh38
NC_000017.10:g.29592266_29592267del , CM000679.1:g.29592266_29592267del	GRCh37
NC_000017.9:g.26616392_26616393del	NCBI36
NG_009018.1:g.175272_175273del , LRG_214:g.175272_175273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.546_547del	ENSP00000492721.2:n.546_547del
ENST00000696138.1:c.4726_4727del	ENSP00000512431.1:p.Glu1576ArgfsTer?
ENST00000696140.1:n.850_851del
ENST00000696141.1:c.735_736del
ENST00000687863.1:n.1389_1390del
ENST00000691014.1:c.4774_4775del	ENSP00000510595.1:p.Glu1592ArgfsTer?
ENST00000358273.9:c.4744_4745del MANE Select	ENSP00000351015.4:p.Glu1582ArgfsTer?
ENST00000356175.7:c.4681_4682del	ENSP00000348498.3:p.Glu1561ArgfsTer?
ENST00000358273.8:c.4744_4745del	ENSP00000351015.4:p.Glu1582ArgfsTer?
ENST00000456735.6:c.3679_3680del	ENSP00000389907.2:p.Glu1227ArgfsTer?
ENST00000493220.5:n.3217_3218del
ENST00000579081.5:c.4783_4784del	ENSP00000462408.1:p.Glu1595ArgfsTer?
NM_000267.3:c.4681_4682del , LRG_214t1:c.4681_4682del	NP_000258.1:p.Glu1561ArgfsTer?
NM_001042492.2:c.4744_4745del , LRG_214t2:c.4744_4745del	NP_001035957.1:p.Glu1582ArgfsTer?
XM_005257983.1:c.4744_4745del	XP_005258040.1:p.Glu1582ArgfsTer?
XM_005257984.1:c.4681_4682del	XP_005258041.1:p.Glu1561ArgfsTer?
XM_006721922.1:c.4774_4775del	XP_006721985.1:p.Glu1592ArgfsTer?
XM_006721923.2:c.4735_4736del	XP_006721986.1:p.Glu1579ArgfsTer?
XM_006721924.1:c.4774_4775del	XP_006721987.1:p.Glu1592ArgfsTer?
XM_006721925.1:c.4711_4712del	XP_006721988.1:p.Glu1571ArgfsTer?
XM_006721926.2:c.4774_4775del	XP_006721989.1:p.Glu1592ArgfsTer?
XM_006721927.1:c.4774_4775del	XP_006721990.1:p.Glu1592ArgfsTer?
XM_006721928.2:c.4774_4775del	XP_006721991.1:p.Glu1592ArgfsTer?
XM_011524852.1:c.4771_4772del	XP_011523154.1:p.Glu1591ArgfsTer?
XM_011524853.1:c.4735_4736del	XP_011523155.1:p.Glu1579ArgfsTer?
XM_011524854.1:c.4735_4736del	XP_011523156.1:p.Glu1579ArgfsTer?
XM_011524855.1:c.4735_4736del	XP_011523157.1:p.Glu1579ArgfsTer?
XM_011524856.1:c.4735_4736del	XP_011523158.1:p.Glu1579ArgfsTer?
XM_011524857.1:c.4774_4775del	XP_011523159.1:p.Glu1592ArgfsTer?
NM_001042492.3:c.4744_4745del MANE Select	NP_001035957.1:p.Glu1582ArgfsTer?