Canonical Allele Identifier: CA915949784

Gene: NF1

Linked Data

• ClinVar Variation Id: 651932
• ClinVar RCV Id: RCV000807384
• dbSNP Id: rs1597829519

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31325833_31325837delinsATATCAG , CM000679.2:g.31325833_31325837delinsATATCAG	GRCh38
NC_000017.10:g.29652851_29652855delinsATATCAG , CM000679.1:g.29652851_29652855delinsATATCAG	GRCh37
NC_000017.9:g.26676977_26676981delinsATATCAG	NCBI36
NG_009018.1:g.235857_235861delinsATATCAG , LRG_214:g.235857_235861delinsATATCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1037_1041delinsATATCAG	ENSP00000492721.2:n.1037_1041delinsATATCAG
ENST00000696138.1:c.4831_4835delinsATATCAG	ENSP00000512431.1:p.Gln1611IlefsTer8
ENST00000684826.1:c.-588_-584delinsATATCAG	ENSP00000509994.1:n.-588_-584delinsATATCAG
ENST00000687027.1:c.-655_-651delinsATATCAG	ENSP00000508715.1:n.-655_-651delinsATATCAG
ENST00000687863.1:n.1494_1498delinsATATCAG
ENST00000691014.1:c.4879_4883delinsATATCAG	ENSP00000510595.1:p.Gln1627IlefsTer8
ENST00000693617.1:c.-588_-584delinsATATCAG	ENSP00000510031.1:n.-588_-584delinsATATCAG
ENST00000358273.9:c.4849_4853delinsATATCAG MANE Select	ENSP00000351015.4:p.Gln1617IlefsTer8
ENST00000356175.7:c.4786_4790delinsATATCAG	ENSP00000348498.3:p.Gln1596IlefsTer8
ENST00000358273.8:c.4849_4853delinsATATCAG	ENSP00000351015.4:p.Gln1617IlefsTer8
ENST00000456735.6:c.3784_3788delinsATATCAG	ENSP00000389907.2:p.Gln1262IlefsTer8
ENST00000493220.5:n.3322_3326delinsATATCAG
ENST00000579081.5:c.4985_4989delinsATATCAG	ENSP00000462408.1:n.4985_4989delinsATATCAG
ENST00000581113.6:n.166_170delinsATATCAG
NM_000267.3:c.4786_4790delinsATATCAG , LRG_214t1:c.4786_4790delinsATATCAG	NP_000258.1:p.Gln1596IlefsTer8
NM_001042492.2:c.4849_4853delinsATATCAG , LRG_214t2:c.4849_4853delinsATATCAG	NP_001035957.1:p.Gln1617IlefsTer8
XM_005257983.1:c.4849_4853delinsATATCAG	XP_005258040.1:p.Gln1617IlefsTer8
XM_005257984.1:c.4786_4790delinsATATCAG	XP_005258041.1:p.Gln1596IlefsTer8
XM_006721922.1:c.4879_4883delinsATATCAG	XP_006721985.1:p.Gln1627IlefsTer8
XM_006721923.2:c.4840_4844delinsATATCAG	XP_006721986.1:p.Gln1614IlefsTer8
XM_006721924.1:c.4879_4883delinsATATCAG	XP_006721987.1:p.Gln1627IlefsTer8
XM_006721925.1:c.4816_4820delinsATATCAG	XP_006721988.1:p.Gln1606IlefsTer8
XM_006721926.2:c.4879_4883delinsATATCAG	XP_006721989.1:p.Gln1627IlefsTer8
XM_006721927.1:c.4879_4883delinsATATCAG	XP_006721990.1:p.Gln1627IlefsTer8
XM_011524852.1:c.4876_4880delinsATATCAG	XP_011523154.1:p.Gln1626IlefsTer8
XM_011524853.1:c.4840_4844delinsATATCAG	XP_011523155.1:p.Gln1614IlefsTer8
XM_011524854.1:c.4840_4844delinsATATCAG	XP_011523156.1:p.Gln1614IlefsTer8
XM_011524855.1:c.4840_4844delinsATATCAG	XP_011523157.1:p.Gln1614IlefsTer8
XM_011524856.1:c.4840_4844delinsATATCAG	XP_011523158.1:p.Gln1614IlefsTer8
XM_011524857.1:c.4879_4883delinsATATCAG	XP_011523159.1:p.Gln1627IlefsTer8
NM_001042492.3:c.4849_4853delinsATATCAG MANE Select	NP_001035957.1:p.Gln1617IlefsTer8