Canonical Allele Identifier: CA2255603145

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338761_31338762delinsGC , CM000679.2:g.31338761_31338762delinsGC	GRCh38
NC_000017.10:g.29665779_29665780delinsGC , CM000679.1:g.29665779_29665780delinsGC	GRCh37
NC_000017.9:g.26689905_26689906delinsGC	NCBI36
NG_009018.1:g.248785_248786delinsGC , LRG_214:g.248785_248786delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6859_6860delinsGC	ENSP00000512431.1:p.Ala2287=
ENST00000684826.1:c.1441_1442delinsGC	ENSP00000509994.1:p.Ala481=
ENST00000684998.1:n.2699_2700delinsGC
ENST00000687027.1:c.1033_1034delinsGC	ENSP00000508715.1:p.Ala345=
ENST00000687863.1:n.3522_3523delinsGC
ENST00000691014.1:c.6907_6908delinsGC	ENSP00000510595.1:p.Ala2303=
ENST00000693617.1:c.1441_1442delinsGC	ENSP00000510031.1:p.Ala481=
ENST00000358273.9:c.6877_6878delinsGC MANE Select	ENSP00000351015.4:p.Ala2293=
ENST00000356175.7:c.6814_6815delinsGC	ENSP00000348498.3:p.Ala2272=
ENST00000358273.8:c.6877_6878delinsGC	ENSP00000351015.4:p.Ala2293=
ENST00000456735.6:c.5812_5813delinsGC	ENSP00000389907.2:p.Ala1938=
ENST00000471572.6:c.260_261delinsGC
ENST00000579081.5:c.7013_7014delinsGC	ENSP00000462408.1:n.7013_7014delinsGC
ENST00000581790.5:c.64+881_64+882delinsGC
ENST00000584328.1:n.291_292delinsGC
NM_000267.3:c.6814_6815delinsGC , LRG_214t1:c.6814_6815delinsGC	NP_000258.1:p.Ala2272=
NM_001042492.2:c.6877_6878delinsGC , LRG_214t2:c.6877_6878delinsGC	NP_001035957.1:p.Ala2293=
XM_005257983.1:c.6877_6878delinsGC	XP_005258040.1:p.Ala2293=
XM_005257984.1:c.6814_6815delinsGC	XP_005258041.1:p.Ala2272=
XM_006721922.1:c.6907_6908delinsGC	XP_006721985.1:p.Ala2303=
XM_006721923.2:c.6868_6869delinsGC	XP_006721986.1:p.Ala2290=
XM_006721924.1:c.6907_6908delinsGC	XP_006721987.1:p.Ala2303=
XM_006721925.1:c.6844_6845delinsGC	XP_006721988.1:p.Ala2282=
XM_006721926.2:c.6907_6908delinsGC	XP_006721989.1:p.Ala2303=
XM_006721927.1:c.6907_6908delinsGC	XP_006721990.1:p.Ala2303=
XM_011524852.1:c.6904_6905delinsGC	XP_011523154.1:p.Ala2302=
XM_011524853.1:c.6868_6869delinsGC	XP_011523155.1:p.Ala2290=
XM_011524854.1:c.6868_6869delinsGC	XP_011523156.1:p.Ala2290=
XM_011524855.1:c.6868_6869delinsGC	XP_011523157.1:p.Ala2290=
XM_011524856.1:c.6868_6869delinsGC	XP_011523158.1:p.Ala2290=
XM_011524857.1:c.6907_6908delinsGC	XP_011523159.1:p.Ala2303=
NM_001042492.3:c.6877_6878delinsGC MANE Select	NP_001035957.1:p.Ala2293=