Canonical Allele Identifier: CA658824481

Gene: NF1

Linked Data

• ClinVar Variation Id: 547650
• ClinVar RCV Id: RCV000660065
• dbSNP Id: rs1555619404
• MyVariant Identifiers: chr17:g.29592305del (hg19) ; chr17:g.31265287del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265287del , CM000679.2:g.31265287del	GRCh38
NC_000017.10:g.29592305del , CM000679.1:g.29592305del	GRCh37
NC_000017.9:g.26616431del	NCBI36
NG_009018.1:g.175311del , LRG_214:g.175311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.585del	ENSP00000492721.2:n.585del
ENST00000696138.1:c.4765del	ENSP00000512431.1:p.Gln1589LysfsTer29
ENST00000696140.1:n.889del
ENST00000696141.1:c.774del
ENST00000687863.1:n.1428del
ENST00000691014.1:c.4813del	ENSP00000510595.1:p.Gln1605LysfsTer29
ENST00000358273.9:c.4783del MANE Select	ENSP00000351015.4:p.Gln1595LysfsTer29
ENST00000356175.7:c.4720del	ENSP00000348498.3:p.Gln1574LysfsTer29
ENST00000358273.8:c.4783del	ENSP00000351015.4:p.Gln1595LysfsTer29
ENST00000456735.6:c.3718del	ENSP00000389907.2:p.Gln1240LysfsTer29
ENST00000493220.5:n.3256del
ENST00000579081.5:c.4822del	ENSP00000462408.1:p.Gln1608LysfsTer25
NM_000267.3:c.4720del , LRG_214t1:c.4720del	NP_000258.1:p.Gln1574LysfsTer29
NM_001042492.2:c.4783del , LRG_214t2:c.4783del	NP_001035957.1:p.Gln1595LysfsTer29
XM_005257983.1:c.4783del	XP_005258040.1:p.Gln1595LysfsTer29
XM_005257984.1:c.4720del	XP_005258041.1:p.Gln1574LysfsTer29
XM_006721922.1:c.4813del	XP_006721985.1:p.Gln1605LysfsTer29
XM_006721923.2:c.4774del	XP_006721986.1:p.Gln1592LysfsTer29
XM_006721924.1:c.4813del	XP_006721987.1:p.Gln1605LysfsTer29
XM_006721925.1:c.4750del	XP_006721988.1:p.Gln1584LysfsTer29
XM_006721926.2:c.4813del	XP_006721989.1:p.Gln1605LysfsTer29
XM_006721927.1:c.4813del	XP_006721990.1:p.Gln1605LysfsTer29
XM_006721928.2:c.4813del	XP_006721991.1:p.Gln1605LysfsTer?
XM_011524852.1:c.4810del	XP_011523154.1:p.Gln1604LysfsTer29
XM_011524853.1:c.4774del	XP_011523155.1:p.Gln1592LysfsTer29
XM_011524854.1:c.4774del	XP_011523156.1:p.Gln1592LysfsTer29
XM_011524855.1:c.4774del	XP_011523157.1:p.Gln1592LysfsTer29
XM_011524856.1:c.4774del	XP_011523158.1:p.Gln1592LysfsTer29
XM_011524857.1:c.4813del	XP_011523159.1:p.Gln1605LysfsTer29
NM_001042492.3:c.4783del MANE Select	NP_001035957.1:p.Gln1595LysfsTer29