Canonical Allele Identifier: CA2697559657

Gene: NF1

Linked Data

• ClinVar Variation Id: 2708908
• ClinVar RCV Id: RCV003496335

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343097_31343098dup , CM000679.2:g.31343097_31343098dup	GRCh38
NC_000017.10:g.29670115_29670116dup , CM000679.1:g.29670115_29670116dup	GRCh37
NC_000017.9:g.26694241_26694242dup	NCBI36
NG_009018.1:g.253121_253122dup , LRG_214:g.253121_253122dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7133_7134dup	ENSP00000512431.1:p.Asn2379LeufsTer12
ENST00000684826.1:c.1715_1716dup	ENSP00000509994.1:p.Asn573LeufsTer12
ENST00000687027.1:c.1307_1308dup	ENSP00000508715.1:p.Asn437LeufsTer12
ENST00000687863.1:n.3796_3797dup
ENST00000689464.1:c.90_91dup
ENST00000691014.1:c.7181_7182dup	ENSP00000510595.1:p.Asn2395LeufsTer12
ENST00000693617.1:c.1715_1716dup	ENSP00000510031.1:p.Asn573LeufsTer12
ENST00000358273.9:c.7151_7152dup MANE Select	ENSP00000351015.4:p.Asn2385LeufsTer12
ENST00000356175.7:c.7088_7089dup	ENSP00000348498.3:p.Asn2364LeufsTer12
ENST00000358273.8:c.7151_7152dup	ENSP00000351015.4:p.Asn2385LeufsTer12
ENST00000456735.6:c.6086_6087dup	ENSP00000389907.2:p.Asn2030LeufsTer12
ENST00000471572.6:c.534_535dup
ENST00000579081.5:c.7287_7288dup	ENSP00000462408.1:n.7287_7288dup
ENST00000581790.5:c.294_295dup
ENST00000582892.1:n.393_394dup
NM_000267.3:c.7088_7089dup , LRG_214t1:c.7088_7089dup	NP_000258.1:p.Asn2364LeufsTer12
NM_001042492.2:c.7151_7152dup , LRG_214t2:c.7151_7152dup	NP_001035957.1:p.Asn2385LeufsTer12
XM_005257983.1:c.7151_7152dup	XP_005258040.1:p.Asn2385LeufsTer12
XM_005257984.1:c.7088_7089dup	XP_005258041.1:p.Asn2364LeufsTer12
XM_006721922.1:c.7181_7182dup	XP_006721985.1:p.Asn2395LeufsTer12
XM_006721923.2:c.7142_7143dup	XP_006721986.1:p.Asn2382LeufsTer12
XM_006721924.1:c.7181_7182dup	XP_006721987.1:p.Asn2395LeufsTer12
XM_006721925.1:c.7118_7119dup	XP_006721988.1:p.Asn2374LeufsTer12
XM_006721926.2:c.7181_7182dup	XP_006721989.1:p.Asn2395LeufsTer12
XM_006721927.1:c.7181_7182dup	XP_006721990.1:p.Asn2395LeufsTer12
XM_011524852.1:c.7178_7179dup	XP_011523154.1:p.Asn2394LeufsTer12
XM_011524853.1:c.7142_7143dup	XP_011523155.1:p.Asn2382LeufsTer12
XM_011524854.1:c.7142_7143dup	XP_011523156.1:p.Asn2382LeufsTer12
XM_011524855.1:c.7142_7143dup	XP_011523157.1:p.Asn2382LeufsTer12
XM_011524856.1:c.7142_7143dup	XP_011523158.1:p.Asn2382LeufsTer12
XM_011524857.1:c.7181_7182dup	XP_011523159.1:p.Asn2395LeufsTer12
NM_001042492.3:c.7151_7152dup MANE Select	NP_001035957.1:p.Asn2385LeufsTer12