Canonical Allele Identifier: CA2695225182

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338737dup , CM000679.2:g.31338737dup	GRCh38
NC_000017.10:g.29665755dup , CM000679.1:g.29665755dup	GRCh37
NC_000017.9:g.26689881dup	NCBI36
NG_009018.1:g.248761dup , LRG_214:g.248761dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6835dup	ENSP00000512431.1:p.Tyr2279LeufsTer22
ENST00000684826.1:c.1417dup	ENSP00000509994.1:p.Tyr473LeufsTer22
ENST00000684998.1:n.2675dup
ENST00000687027.1:c.1009dup	ENSP00000508715.1:p.Tyr337LeufsTer22
ENST00000687863.1:n.3498dup
ENST00000691014.1:c.6883dup	ENSP00000510595.1:p.Tyr2295LeufsTer22
ENST00000693617.1:c.1417dup	ENSP00000510031.1:p.Tyr473LeufsTer22
ENST00000358273.9:c.6853dup MANE Select	ENSP00000351015.4:p.Tyr2285LeufsTer22
ENST00000356175.7:c.6790dup	ENSP00000348498.3:p.Tyr2264LeufsTer22
ENST00000358273.8:c.6853dup	ENSP00000351015.4:p.Tyr2285LeufsTer22
ENST00000456735.6:c.5788dup	ENSP00000389907.2:p.Tyr1930LeufsTer22
ENST00000471572.6:c.236dup
ENST00000579081.5:c.6989dup	ENSP00000462408.1:n.6989dup
ENST00000581790.5:c.64+857dup
ENST00000584328.1:n.267dup
NM_000267.3:c.6790dup , LRG_214t1:c.6790dup	NP_000258.1:p.Tyr2264LeufsTer22
NM_001042492.2:c.6853dup , LRG_214t2:c.6853dup	NP_001035957.1:p.Tyr2285LeufsTer22
XM_005257983.1:c.6853dup	XP_005258040.1:p.Tyr2285LeufsTer22
XM_005257984.1:c.6790dup	XP_005258041.1:p.Tyr2264LeufsTer22
XM_006721922.1:c.6883dup	XP_006721985.1:p.Tyr2295LeufsTer22
XM_006721923.2:c.6844dup	XP_006721986.1:p.Tyr2282LeufsTer22
XM_006721924.1:c.6883dup	XP_006721987.1:p.Tyr2295LeufsTer22
XM_006721925.1:c.6820dup	XP_006721988.1:p.Tyr2274LeufsTer22
XM_006721926.2:c.6883dup	XP_006721989.1:p.Tyr2295LeufsTer22
XM_006721927.1:c.6883dup	XP_006721990.1:p.Tyr2295LeufsTer22
XM_011524852.1:c.6880dup	XP_011523154.1:p.Tyr2294LeufsTer22
XM_011524853.1:c.6844dup	XP_011523155.1:p.Tyr2282LeufsTer22
XM_011524854.1:c.6844dup	XP_011523156.1:p.Tyr2282LeufsTer22
XM_011524855.1:c.6844dup	XP_011523157.1:p.Tyr2282LeufsTer22
XM_011524856.1:c.6844dup	XP_011523158.1:p.Tyr2282LeufsTer22
XM_011524857.1:c.6883dup	XP_011523159.1:p.Tyr2295LeufsTer22
NM_001042492.3:c.6853dup MANE Select	NP_001035957.1:p.Tyr2285LeufsTer22