Canonical Allele Identifier: CA2695225257

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31223459_31223460del , CM000679.2:g.31223459_31223460del	GRCh38
NC_000017.10:g.29550477_29550478del , CM000679.1:g.29550477_29550478del	GRCh37
NC_000017.9:g.26574603_26574604del	NCBI36
NG_009018.1:g.133483_133484del , LRG_214:g.133483_133484del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.1782_1783del	ENSP00000512431.1:p.Phe594LeufsTer8
ENST00000691014.1:c.1767_1768del	ENSP00000510595.1:p.Phe589LeufsTer8
ENST00000358273.9:c.1737_1738del MANE Select	ENSP00000351015.4:p.Phe579LeufsTer8
ENST00000356175.7:c.1737_1738del	ENSP00000348498.3:p.Phe579LeufsTer8
ENST00000358273.8:c.1737_1738del	ENSP00000351015.4:p.Phe579LeufsTer8
ENST00000456735.6:c.735_736del	ENSP00000389907.2:p.Phe245LeufsTer8
ENST00000495910.6:c.1512_1513del
ENST00000579081.5:c.1839_1840del	ENSP00000462408.1:p.Phe613LeufsTer8
NM_000267.3:c.1737_1738del , LRG_214t1:c.1737_1738del	NP_000258.1:p.Phe579LeufsTer8
NM_001042492.2:c.1737_1738del , LRG_214t2:c.1737_1738del	NP_001035957.1:p.Phe579LeufsTer8
XM_005257983.1:c.1737_1738del	XP_005258040.1:p.Phe579LeufsTer8
XM_005257984.1:c.1737_1738del	XP_005258041.1:p.Phe579LeufsTer8
XM_006721922.1:c.1767_1768del	XP_006721985.1:p.Phe589LeufsTer8
XM_006721923.2:c.1728_1729del	XP_006721986.1:p.Phe576LeufsTer8
XM_006721924.1:c.1767_1768del	XP_006721987.1:p.Phe589LeufsTer8
XM_006721925.1:c.1767_1768del	XP_006721988.1:p.Phe589LeufsTer8
XM_006721926.2:c.1767_1768del	XP_006721989.1:p.Phe589LeufsTer8
XM_006721927.1:c.1767_1768del	XP_006721990.1:p.Phe589LeufsTer8
XM_006721928.2:c.1767_1768del	XP_006721991.1:p.Phe589LeufsTer8
XM_011524852.1:c.1767_1768del	XP_011523154.1:p.Phe589LeufsTer8
XM_011524853.1:c.1728_1729del	XP_011523155.1:p.Phe576LeufsTer8
XM_011524854.1:c.1728_1729del	XP_011523156.1:p.Phe576LeufsTer8
XM_011524855.1:c.1728_1729del	XP_011523157.1:p.Phe576LeufsTer8
XM_011524856.1:c.1728_1729del	XP_011523158.1:p.Phe576LeufsTer8
XM_011524857.1:c.1767_1768del	XP_011523159.1:p.Phe589LeufsTer8
NM_001042492.3:c.1737_1738del MANE Select	NP_001035957.1:p.Phe579LeufsTer8