Canonical Allele Identifier: CA915949864

Gene: NF1

Linked Data

• ClinVar Variation Id: 817404
• ClinVar RCV Id: RCV001008529
• dbSNP Id: rs1597834959

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330492_31330498del , CM000679.2:g.31330492_31330498del	GRCh38
NC_000017.10:g.29657510_29657516del , CM000679.1:g.29657510_29657516del	GRCh37
NC_000017.9:g.26681636_26681642del	NCBI36
NG_009018.1:g.240516_240522del , LRG_214:g.240516_240522del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1994_2000del	ENSP00000492721.2:n.1994_2000del
ENST00000696138.1:c.5788_5794del	ENSP00000512431.1:p.Lys1930ValfsTer4
ENST00000684826.1:c.370_376del	ENSP00000509994.1:p.Lys124ValfsTer4
ENST00000687027.1:c.-39_-33del	ENSP00000508715.1:n.-39_-33del
ENST00000687863.1:n.2451_2457del
ENST00000691014.1:c.5836_5842del	ENSP00000510595.1:p.Lys1946ValfsTer4
ENST00000693617.1:c.370_376del	ENSP00000510031.1:p.Lys124ValfsTer4
ENST00000358273.9:c.5806_5812del MANE Select	ENSP00000351015.4:p.Lys1936ValfsTer4
ENST00000356175.7:c.5743_5749del	ENSP00000348498.3:p.Lys1915ValfsTer4
ENST00000358273.8:c.5806_5812del	ENSP00000351015.4:p.Lys1936ValfsTer4
ENST00000456735.6:c.4741_4747del	ENSP00000389907.2:p.Lys1581ValfsTer4
ENST00000479536.2:c.164_170del
ENST00000493220.5:n.4279_4285del
ENST00000579081.5:c.5942_5948del	ENSP00000462408.1:n.5942_5948del
ENST00000581113.6:n.1123_1129del
NM_000267.3:c.5743_5749del , LRG_214t1:c.5743_5749del	NP_000258.1:p.Lys1915ValfsTer4
NM_001042492.2:c.5806_5812del , LRG_214t2:c.5806_5812del	NP_001035957.1:p.Lys1936ValfsTer4
XM_005257983.1:c.5806_5812del	XP_005258040.1:p.Lys1936ValfsTer4
XM_005257984.1:c.5743_5749del	XP_005258041.1:p.Lys1915ValfsTer4
XM_006721922.1:c.5836_5842del	XP_006721985.1:p.Lys1946ValfsTer4
XM_006721923.2:c.5797_5803del	XP_006721986.1:p.Lys1933ValfsTer4
XM_006721924.1:c.5836_5842del	XP_006721987.1:p.Lys1946ValfsTer4
XM_006721925.1:c.5773_5779del	XP_006721988.1:p.Lys1925ValfsTer4
XM_006721926.2:c.5836_5842del	XP_006721989.1:p.Lys1946ValfsTer4
XM_006721927.1:c.5836_5842del	XP_006721990.1:p.Lys1946ValfsTer4
XM_011524852.1:c.5833_5839del	XP_011523154.1:p.Lys1945ValfsTer4
XM_011524853.1:c.5797_5803del	XP_011523155.1:p.Lys1933ValfsTer4
XM_011524854.1:c.5797_5803del	XP_011523156.1:p.Lys1933ValfsTer4
XM_011524855.1:c.5797_5803del	XP_011523157.1:p.Lys1933ValfsTer4
XM_011524856.1:c.5797_5803del	XP_011523158.1:p.Lys1933ValfsTer4
XM_011524857.1:c.5836_5842del	XP_011523159.1:p.Lys1946ValfsTer4
NM_001042492.3:c.5806_5812del MANE Select	NP_001035957.1:p.Lys1936ValfsTer4