Canonical Allele Identifier: CA2695225451

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343124del , CM000679.2:g.31343124del	GRCh38
NC_000017.10:g.29670142del , CM000679.1:g.29670142del	GRCh37
NC_000017.9:g.26694268del	NCBI36
NG_009018.1:g.253148del , LRG_214:g.253148del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7160del	ENSP00000512431.1:p.His2387ProfsTer3
ENST00000684826.1:c.1742del	ENSP00000509994.1:p.His581ProfsTer3
ENST00000687027.1:c.1334del	ENSP00000508715.1:p.His445ProfsTer3
ENST00000687863.1:n.3823del
ENST00000689464.1:c.117del
ENST00000691014.1:c.7208del	ENSP00000510595.1:p.His2403ProfsTer3
ENST00000693617.1:c.1742del	ENSP00000510031.1:p.His581ProfsTer3
ENST00000358273.9:c.7178del MANE Select	ENSP00000351015.4:p.His2393ProfsTer3
ENST00000356175.7:c.7115del	ENSP00000348498.3:p.His2372ProfsTer3
ENST00000358273.8:c.7178del	ENSP00000351015.4:p.His2393ProfsTer3
ENST00000456735.6:c.6113del	ENSP00000389907.2:p.His2038ProfsTer3
ENST00000471572.6:c.561del
ENST00000579081.5:c.7314del	ENSP00000462408.1:n.7314del
ENST00000581790.5:c.321del
ENST00000582892.1:n.420del
NM_000267.3:c.7115del , LRG_214t1:c.7115del	NP_000258.1:p.His2372ProfsTer3
NM_001042492.2:c.7178del , LRG_214t2:c.7178del	NP_001035957.1:p.His2393ProfsTer3
XM_005257983.1:c.7178del	XP_005258040.1:p.His2393ProfsTer3
XM_005257984.1:c.7115del	XP_005258041.1:p.His2372ProfsTer3
XM_006721922.1:c.7208del	XP_006721985.1:p.His2403ProfsTer3
XM_006721923.2:c.7169del	XP_006721986.1:p.His2390ProfsTer3
XM_006721924.1:c.7208del	XP_006721987.1:p.His2403ProfsTer3
XM_006721925.1:c.7145del	XP_006721988.1:p.His2382ProfsTer3
XM_006721926.2:c.7208del	XP_006721989.1:p.His2403ProfsTer3
XM_006721927.1:c.7208del	XP_006721990.1:p.His2403ProfsTer3
XM_011524852.1:c.7205del	XP_011523154.1:p.His2402ProfsTer3
XM_011524853.1:c.7169del	XP_011523155.1:p.His2390ProfsTer3
XM_011524854.1:c.7169del	XP_011523156.1:p.His2390ProfsTer3
XM_011524855.1:c.7169del	XP_011523157.1:p.His2390ProfsTer3
XM_011524856.1:c.7169del	XP_011523158.1:p.His2390ProfsTer3
XM_011524857.1:c.7208del	XP_011523159.1:p.His2403ProfsTer3
NM_001042492.3:c.7178del MANE Select	NP_001035957.1:p.His2393ProfsTer3