Canonical Allele Identifier: CA915949669

Gene: NF1

Linked Data

• ClinVar Variation Id: 653392
• ClinVar RCV Id: RCV000809160
• dbSNP Id: rs1597753176

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265242_31265249delinsAAAAAGG , CM000679.2:g.31265242_31265249delinsAAAAAGG	GRCh38
NC_000017.10:g.29592260_29592267delinsAAAAAGG , CM000679.1:g.29592260_29592267delinsAAAAAGG	GRCh37
NC_000017.9:g.26616386_26616393delinsAAAAAGG	NCBI36
NG_009018.1:g.175266_175273delinsAAAAAGG , LRG_214:g.175266_175273delinsAAAAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.540_547delinsAAAAAGG	ENSP00000492721.2:n.540_547delinsAAAAAGG
ENST00000696138.1:c.4720_4727delinsAAAAAGG	ENSP00000512431.1:p.Glu1574LysfsTer8
ENST00000696140.1:n.844_851delinsAAAAAGG
ENST00000696141.1:c.729_736delinsAAAAAGG
ENST00000687863.1:n.1383_1390delinsAAAAAGG
ENST00000691014.1:c.4768_4775delinsAAAAAGG	ENSP00000510595.1:p.Glu1590LysfsTer8
ENST00000358273.9:c.4738_4745delinsAAAAAGG MANE Select	ENSP00000351015.4:p.Glu1580LysfsTer8
ENST00000356175.7:c.4675_4682delinsAAAAAGG	ENSP00000348498.3:p.Glu1559LysfsTer8
ENST00000358273.8:c.4738_4745delinsAAAAAGG	ENSP00000351015.4:p.Glu1580LysfsTer8
ENST00000456735.6:c.3673_3680delinsAAAAAGG	ENSP00000389907.2:p.Glu1225LysfsTer8
ENST00000493220.5:n.3211_3218delinsAAAAAGG
ENST00000579081.5:c.4777_4784delinsAAAAAGG	ENSP00000462408.1:p.Glu1593LysfsTer8
NM_000267.3:c.4675_4682delinsAAAAAGG , LRG_214t1:c.4675_4682delinsAAAAAGG	NP_000258.1:p.Glu1559LysfsTer8
NM_001042492.2:c.4738_4745delinsAAAAAGG , LRG_214t2:c.4738_4745delinsAAAAAGG	NP_001035957.1:p.Glu1580LysfsTer8
XM_005257983.1:c.4738_4745delinsAAAAAGG	XP_005258040.1:p.Glu1580LysfsTer8
XM_005257984.1:c.4675_4682delinsAAAAAGG	XP_005258041.1:p.Glu1559LysfsTer8
XM_006721922.1:c.4768_4775delinsAAAAAGG	XP_006721985.1:p.Glu1590LysfsTer8
XM_006721923.2:c.4729_4736delinsAAAAAGG	XP_006721986.1:p.Glu1577LysfsTer8
XM_006721924.1:c.4768_4775delinsAAAAAGG	XP_006721987.1:p.Glu1590LysfsTer8
XM_006721925.1:c.4705_4712delinsAAAAAGG	XP_006721988.1:p.Glu1569LysfsTer8
XM_006721926.2:c.4768_4775delinsAAAAAGG	XP_006721989.1:p.Glu1590LysfsTer8
XM_006721927.1:c.4768_4775delinsAAAAAGG	XP_006721990.1:p.Glu1590LysfsTer8
XM_006721928.2:c.4768_4775delinsAAAAAGG	XP_006721991.1:p.Glu1590LysfsTer8
XM_011524852.1:c.4765_4772delinsAAAAAGG	XP_011523154.1:p.Glu1589LysfsTer8
XM_011524853.1:c.4729_4736delinsAAAAAGG	XP_011523155.1:p.Glu1577LysfsTer8
XM_011524854.1:c.4729_4736delinsAAAAAGG	XP_011523156.1:p.Glu1577LysfsTer8
XM_011524855.1:c.4729_4736delinsAAAAAGG	XP_011523157.1:p.Glu1577LysfsTer8
XM_011524856.1:c.4729_4736delinsAAAAAGG	XP_011523158.1:p.Glu1577LysfsTer8
XM_011524857.1:c.4768_4775delinsAAAAAGG	XP_011523159.1:p.Glu1590LysfsTer8
NM_001042492.3:c.4738_4745delinsAAAAAGG MANE Select	NP_001035957.1:p.Glu1580LysfsTer8