Canonical Allele Identifier: CA2580093342

Gene: NF1

Linked Data

• ClinVar Variation Id: 2019836
• ClinVar RCV Id: RCV002852117

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265278_31265281dup , CM000679.2:g.31265278_31265281dup	GRCh38
NC_000017.10:g.29592296_29592299dup , CM000679.1:g.29592296_29592299dup	GRCh37
NC_000017.9:g.26616422_26616425dup	NCBI36
NG_009018.1:g.175302_175305dup , LRG_214:g.175302_175305dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.576_579dup	ENSP00000492721.2:n.576_579dup
ENST00000696138.1:c.4756_4759dup	ENSP00000512431.1:p.Phe1587TyrfsTer30
ENST00000696140.1:n.880_883dup
ENST00000696141.1:c.765_768dup
ENST00000687863.1:n.1419_1422dup
ENST00000691014.1:c.4804_4807dup	ENSP00000510595.1:p.Phe1603TyrfsTer30
ENST00000358273.9:c.4774_4777dup MANE Select	ENSP00000351015.4:p.Phe1593TyrfsTer30
ENST00000356175.7:c.4711_4714dup	ENSP00000348498.3:p.Phe1572TyrfsTer30
ENST00000358273.8:c.4774_4777dup	ENSP00000351015.4:p.Phe1593TyrfsTer30
ENST00000456735.6:c.3709_3712dup	ENSP00000389907.2:p.Phe1238TyrfsTer30
ENST00000493220.5:n.3247_3250dup
ENST00000579081.5:c.4813_4816dup	ENSP00000462408.1:p.Phe1606TyrfsTer?
NM_000267.3:c.4711_4714dup , LRG_214t1:c.4711_4714dup	NP_000258.1:p.Phe1572TyrfsTer30
NM_001042492.2:c.4774_4777dup , LRG_214t2:c.4774_4777dup	NP_001035957.1:p.Phe1593TyrfsTer30
XM_005257983.1:c.4774_4777dup	XP_005258040.1:p.Phe1593TyrfsTer30
XM_005257984.1:c.4711_4714dup	XP_005258041.1:p.Phe1572TyrfsTer30
XM_006721922.1:c.4804_4807dup	XP_006721985.1:p.Phe1603TyrfsTer30
XM_006721923.2:c.4765_4768dup	XP_006721986.1:p.Phe1590TyrfsTer30
XM_006721924.1:c.4804_4807dup	XP_006721987.1:p.Phe1603TyrfsTer30
XM_006721925.1:c.4741_4744dup	XP_006721988.1:p.Phe1582TyrfsTer30
XM_006721926.2:c.4804_4807dup	XP_006721989.1:p.Phe1603TyrfsTer30
XM_006721927.1:c.4804_4807dup	XP_006721990.1:p.Phe1603TyrfsTer30
XM_006721928.2:c.4804_4807dup	XP_006721991.1:p.Phe1603TyrfsTer?
XM_011524852.1:c.4801_4804dup	XP_011523154.1:p.Phe1602TyrfsTer30
XM_011524853.1:c.4765_4768dup	XP_011523155.1:p.Phe1590TyrfsTer30
XM_011524854.1:c.4765_4768dup	XP_011523156.1:p.Phe1590TyrfsTer30
XM_011524855.1:c.4765_4768dup	XP_011523157.1:p.Phe1590TyrfsTer30
XM_011524856.1:c.4765_4768dup	XP_011523158.1:p.Phe1590TyrfsTer30
XM_011524857.1:c.4804_4807dup	XP_011523159.1:p.Phe1603TyrfsTer30
NM_001042492.3:c.4774_4777dup MANE Select	NP_001035957.1:p.Phe1593TyrfsTer30