Canonical Allele Identifier: CA2255603110

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338706_31338711delinsACTTGA , CM000679.2:g.31338706_31338711delinsACTTGA	GRCh38
NC_000017.10:g.29665724_29665729delinsACTTGA , CM000679.1:g.29665724_29665729delinsACTTGA	GRCh37
NC_000017.9:g.26689850_26689855delinsACTTGA	NCBI36
NG_009018.1:g.248730_248735delinsACTTGA , LRG_214:g.248730_248735delinsACTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6804_6809delinsACTTGA	ENSP00000512431.1:p.Ala2268=
ENST00000684826.1:c.1386_1391delinsACTTGA	ENSP00000509994.1:p.Ala462=
ENST00000684998.1:n.2644_2649delinsACTTGA
ENST00000687027.1:c.978_983delinsACTTGA	ENSP00000508715.1:p.Ala326=
ENST00000687863.1:n.3467_3472delinsACTTGA
ENST00000691014.1:c.6852_6857delinsACTTGA	ENSP00000510595.1:p.Ala2284=
ENST00000693617.1:c.1386_1391delinsACTTGA	ENSP00000510031.1:p.Ala462=
ENST00000358273.9:c.6822_6827delinsACTTGA MANE Select	ENSP00000351015.4:p.Ala2274=
ENST00000356175.7:c.6759_6764delinsACTTGA	ENSP00000348498.3:p.Ala2253=
ENST00000358273.8:c.6822_6827delinsACTTGA	ENSP00000351015.4:p.Ala2274=
ENST00000456735.6:c.5757_5762delinsACTTGA	ENSP00000389907.2:p.Ala1919=
ENST00000471572.6:c.205_210delinsACTTGA
ENST00000579081.5:c.6958_6963delinsACTTGA	ENSP00000462408.1:n.6958_6963delinsACTTGA
ENST00000581790.5:c.64+826_64+831delinsACTTGA
ENST00000584328.1:n.236_241delinsACTTGA
NM_000267.3:c.6759_6764delinsACTTGA , LRG_214t1:c.6759_6764delinsACTTGA	NP_000258.1:p.Ala2253=
NM_001042492.2:c.6822_6827delinsACTTGA , LRG_214t2:c.6822_6827delinsACTTGA	NP_001035957.1:p.Ala2274=
XM_005257983.1:c.6822_6827delinsACTTGA	XP_005258040.1:p.Ala2274=
XM_005257984.1:c.6759_6764delinsACTTGA	XP_005258041.1:p.Ala2253=
XM_006721922.1:c.6852_6857delinsACTTGA	XP_006721985.1:p.Ala2284=
XM_006721923.2:c.6813_6818delinsACTTGA	XP_006721986.1:p.Ala2271=
XM_006721924.1:c.6852_6857delinsACTTGA	XP_006721987.1:p.Ala2284=
XM_006721925.1:c.6789_6794delinsACTTGA	XP_006721988.1:p.Ala2263=
XM_006721926.2:c.6852_6857delinsACTTGA	XP_006721989.1:p.Ala2284=
XM_006721927.1:c.6852_6857delinsACTTGA	XP_006721990.1:p.Ala2284=
XM_011524852.1:c.6849_6854delinsACTTGA	XP_011523154.1:p.Ala2283=
XM_011524853.1:c.6813_6818delinsACTTGA	XP_011523155.1:p.Ala2271=
XM_011524854.1:c.6813_6818delinsACTTGA	XP_011523156.1:p.Ala2271=
XM_011524855.1:c.6813_6818delinsACTTGA	XP_011523157.1:p.Ala2271=
XM_011524856.1:c.6813_6818delinsACTTGA	XP_011523158.1:p.Ala2271=
XM_011524857.1:c.6852_6857delinsACTTGA	XP_011523159.1:p.Ala2284=
NM_001042492.3:c.6822_6827delinsACTTGA MANE Select	NP_001035957.1:p.Ala2274=