Canonical Allele Identifier: CA2695225188

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338775_31338776del , CM000679.2:g.31338775_31338776del	GRCh38
NC_000017.10:g.29665793_29665794del , CM000679.1:g.29665793_29665794del	GRCh37
NC_000017.9:g.26689919_26689920del	NCBI36
NG_009018.1:g.248799_248800del , LRG_214:g.248799_248800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6873_6874del	ENSP00000512431.1:p.Leu2292AsnfsTer8
ENST00000684826.1:c.1455_1456del	ENSP00000509994.1:p.Leu486AsnfsTer8
ENST00000684998.1:n.2713_2714del
ENST00000687027.1:c.1047_1048del	ENSP00000508715.1:p.Leu350AsnfsTer8
ENST00000687863.1:n.3536_3537del
ENST00000691014.1:c.6921_6922del	ENSP00000510595.1:p.Leu2308AsnfsTer8
ENST00000693617.1:c.1455_1456del	ENSP00000510031.1:p.Leu486AsnfsTer8
ENST00000358273.9:c.6891_6892del MANE Select	ENSP00000351015.4:p.Leu2298AsnfsTer8
ENST00000356175.7:c.6828_6829del	ENSP00000348498.3:p.Leu2277AsnfsTer8
ENST00000358273.8:c.6891_6892del	ENSP00000351015.4:p.Leu2298AsnfsTer8
ENST00000456735.6:c.5826_5827del	ENSP00000389907.2:p.Leu1943AsnfsTer8
ENST00000471572.6:c.274_275del
ENST00000579081.5:c.7027_7028del	ENSP00000462408.1:n.7027_7028del
ENST00000581790.5:c.64+895_64+896del
ENST00000584328.1:n.305_306del
NM_000267.3:c.6828_6829del , LRG_214t1:c.6828_6829del	NP_000258.1:p.Leu2277AsnfsTer8
NM_001042492.2:c.6891_6892del , LRG_214t2:c.6891_6892del	NP_001035957.1:p.Leu2298AsnfsTer8
XM_005257983.1:c.6891_6892del	XP_005258040.1:p.Leu2298AsnfsTer8
XM_005257984.1:c.6828_6829del	XP_005258041.1:p.Leu2277AsnfsTer8
XM_006721922.1:c.6921_6922del	XP_006721985.1:p.Leu2308AsnfsTer8
XM_006721923.2:c.6882_6883del	XP_006721986.1:p.Leu2295AsnfsTer8
XM_006721924.1:c.6921_6922del	XP_006721987.1:p.Leu2308AsnfsTer8
XM_006721925.1:c.6858_6859del	XP_006721988.1:p.Leu2287AsnfsTer8
XM_006721926.2:c.6921_6922del	XP_006721989.1:p.Leu2308AsnfsTer8
XM_006721927.1:c.6921_6922del	XP_006721990.1:p.Leu2308AsnfsTer8
XM_011524852.1:c.6918_6919del	XP_011523154.1:p.Leu2307AsnfsTer8
XM_011524853.1:c.6882_6883del	XP_011523155.1:p.Leu2295AsnfsTer8
XM_011524854.1:c.6882_6883del	XP_011523156.1:p.Leu2295AsnfsTer8
XM_011524855.1:c.6882_6883del	XP_011523157.1:p.Leu2295AsnfsTer8
XM_011524856.1:c.6882_6883del	XP_011523158.1:p.Leu2295AsnfsTer8
XM_011524857.1:c.6921_6922del	XP_011523159.1:p.Leu2308AsnfsTer8
NM_001042492.3:c.6891_6892del MANE Select	NP_001035957.1:p.Leu2298AsnfsTer8