Canonical Allele Identifier: CA2695225447

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343058_31343073del , CM000679.2:g.31343058_31343073del	GRCh38
NC_000017.10:g.29670076_29670091del , CM000679.1:g.29670076_29670091del	GRCh37
NC_000017.9:g.26694202_26694217del	NCBI36
NG_009018.1:g.253082_253097del , LRG_214:g.253082_253097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7094_7109del	ENSP00000512431.1:p.Cys2365PhefsTer20
ENST00000684826.1:c.1676_1691del	ENSP00000509994.1:p.Cys559PhefsTer20
ENST00000687027.1:c.1268_1283del	ENSP00000508715.1:p.Cys423PhefsTer20
ENST00000687863.1:n.3757_3772del
ENST00000689464.1:c.51_66del
ENST00000691014.1:c.7142_7157del	ENSP00000510595.1:p.Cys2381PhefsTer20
ENST00000693617.1:c.1676_1691del	ENSP00000510031.1:p.Cys559PhefsTer20
ENST00000358273.9:c.7112_7127del MANE Select	ENSP00000351015.4:p.Cys2371PhefsTer20
ENST00000356175.7:c.7049_7064del	ENSP00000348498.3:p.Cys2350PhefsTer20
ENST00000358273.8:c.7112_7127del	ENSP00000351015.4:p.Cys2371PhefsTer20
ENST00000456735.6:c.6047_6062del	ENSP00000389907.2:p.Cys2016PhefsTer20
ENST00000471572.6:c.495_510del
ENST00000579081.5:c.7248_7263del	ENSP00000462408.1:n.7248_7263del
ENST00000581790.5:c.255_270del
ENST00000582892.1:n.354_369del
ENST00000584328.1:n.526_541del
NM_000267.3:c.7049_7064del , LRG_214t1:c.7049_7064del	NP_000258.1:p.Cys2350PhefsTer20
NM_001042492.2:c.7112_7127del , LRG_214t2:c.7112_7127del	NP_001035957.1:p.Cys2371PhefsTer20
XM_005257983.1:c.7112_7127del	XP_005258040.1:p.Cys2371PhefsTer20
XM_005257984.1:c.7049_7064del	XP_005258041.1:p.Cys2350PhefsTer20
XM_006721922.1:c.7142_7157del	XP_006721985.1:p.Cys2381PhefsTer20
XM_006721923.2:c.7103_7118del	XP_006721986.1:p.Cys2368PhefsTer20
XM_006721924.1:c.7142_7157del	XP_006721987.1:p.Cys2381PhefsTer20
XM_006721925.1:c.7079_7094del	XP_006721988.1:p.Cys2360PhefsTer20
XM_006721926.2:c.7142_7157del	XP_006721989.1:p.Cys2381PhefsTer20
XM_006721927.1:c.7142_7157del	XP_006721990.1:p.Cys2381PhefsTer20
XM_011524852.1:c.7139_7154del	XP_011523154.1:p.Cys2380PhefsTer20
XM_011524853.1:c.7103_7118del	XP_011523155.1:p.Cys2368PhefsTer20
XM_011524854.1:c.7103_7118del	XP_011523156.1:p.Cys2368PhefsTer20
XM_011524855.1:c.7103_7118del	XP_011523157.1:p.Cys2368PhefsTer20
XM_011524856.1:c.7103_7118del	XP_011523158.1:p.Cys2368PhefsTer20
XM_011524857.1:c.7142_7157del	XP_011523159.1:p.Cys2381PhefsTer20
NM_001042492.3:c.7112_7127del MANE Select	NP_001035957.1:p.Cys2371PhefsTer20