Canonical Allele Identifier: CA2255603127

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338733_31338737delinsCACTT , CM000679.2:g.31338733_31338737delinsCACTT	GRCh38
NC_000017.10:g.29665751_29665755delinsCACTT , CM000679.1:g.29665751_29665755delinsCACTT	GRCh37
NC_000017.9:g.26689877_26689881delinsCACTT	NCBI36
NG_009018.1:g.248757_248761delinsCACTT , LRG_214:g.248757_248761delinsCACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6831_6835delinsCACTT	ENSP00000512431.1:p.Asp2277=
ENST00000684826.1:c.1413_1417delinsCACTT	ENSP00000509994.1:p.Asp471=
ENST00000684998.1:n.2671_2675delinsCACTT
ENST00000687027.1:c.1005_1009delinsCACTT	ENSP00000508715.1:p.Asp335=
ENST00000687863.1:n.3494_3498delinsCACTT
ENST00000691014.1:c.6879_6883delinsCACTT	ENSP00000510595.1:p.Asp2293=
ENST00000693617.1:c.1413_1417delinsCACTT	ENSP00000510031.1:p.Asp471=
ENST00000358273.9:c.6849_6853delinsCACTT MANE Select	ENSP00000351015.4:p.Asp2283=
ENST00000356175.7:c.6786_6790delinsCACTT	ENSP00000348498.3:p.Asp2262=
ENST00000358273.8:c.6849_6853delinsCACTT	ENSP00000351015.4:p.Asp2283=
ENST00000456735.6:c.5784_5788delinsCACTT	ENSP00000389907.2:p.Asp1928=
ENST00000471572.6:c.232_236delinsCACTT
ENST00000579081.5:c.6985_6989delinsCACTT	ENSP00000462408.1:n.6985_6989delinsCACTT
ENST00000581790.5:c.64+853_64+857delinsCACTT
ENST00000584328.1:n.263_267delinsCACTT
NM_000267.3:c.6786_6790delinsCACTT , LRG_214t1:c.6786_6790delinsCACTT	NP_000258.1:p.Asp2262=
NM_001042492.2:c.6849_6853delinsCACTT , LRG_214t2:c.6849_6853delinsCACTT	NP_001035957.1:p.Asp2283=
XM_005257983.1:c.6849_6853delinsCACTT	XP_005258040.1:p.Asp2283=
XM_005257984.1:c.6786_6790delinsCACTT	XP_005258041.1:p.Asp2262=
XM_006721922.1:c.6879_6883delinsCACTT	XP_006721985.1:p.Asp2293=
XM_006721923.2:c.6840_6844delinsCACTT	XP_006721986.1:p.Asp2280=
XM_006721924.1:c.6879_6883delinsCACTT	XP_006721987.1:p.Asp2293=
XM_006721925.1:c.6816_6820delinsCACTT	XP_006721988.1:p.Asp2272=
XM_006721926.2:c.6879_6883delinsCACTT	XP_006721989.1:p.Asp2293=
XM_006721927.1:c.6879_6883delinsCACTT	XP_006721990.1:p.Asp2293=
XM_011524852.1:c.6876_6880delinsCACTT	XP_011523154.1:p.Asp2292=
XM_011524853.1:c.6840_6844delinsCACTT	XP_011523155.1:p.Asp2280=
XM_011524854.1:c.6840_6844delinsCACTT	XP_011523156.1:p.Asp2280=
XM_011524855.1:c.6840_6844delinsCACTT	XP_011523157.1:p.Asp2280=
XM_011524856.1:c.6840_6844delinsCACTT	XP_011523158.1:p.Asp2280=
XM_011524857.1:c.6879_6883delinsCACTT	XP_011523159.1:p.Asp2293=
NM_001042492.3:c.6849_6853delinsCACTT MANE Select	NP_001035957.1:p.Asp2283=