Canonical Allele Identifier: CA2637082449

Gene: NF1

Linked Data

• gnomAD v4: 17-31229051-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229052del , CM000679.2:g.31229052del	GRCh38
NC_000017.10:g.29556070del , CM000679.1:g.29556070del	GRCh37
NC_000017.9:g.26580196del	NCBI36
NG_009018.1:g.139076del , LRG_214:g.139076del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.2482del	ENSP00000512431.1:p.Val828LeufsTer8
ENST00000691014.1:c.2467del	ENSP00000510595.1:p.Val823LeufsTer8
ENST00000358273.9:c.2437del MANE Select	ENSP00000351015.4:p.Val813LeufsTer8
ENST00000356175.7:c.2437del	ENSP00000348498.3:p.Val813LeufsTer8
ENST00000358273.8:c.2437del	ENSP00000351015.4:p.Val813LeufsTer8
ENST00000456735.6:c.1435del	ENSP00000389907.2:p.Val479LeufsTer8
ENST00000493220.5:n.604del
ENST00000495910.6:c.2212del
ENST00000579081.5:c.2539del	ENSP00000462408.1:p.Val847LeufsTer8
NM_000267.3:c.2437del , LRG_214t1:c.2437del	NP_000258.1:p.Val813LeufsTer8
NM_001042492.2:c.2437del , LRG_214t2:c.2437del	NP_001035957.1:p.Val813LeufsTer8
XM_005257983.1:c.2437del	XP_005258040.1:p.Val813LeufsTer8
XM_005257984.1:c.2437del	XP_005258041.1:p.Val813LeufsTer8
XM_006721922.1:c.2467del	XP_006721985.1:p.Val823LeufsTer8
XM_006721923.2:c.2428del	XP_006721986.1:p.Val810LeufsTer8
XM_006721924.1:c.2467del	XP_006721987.1:p.Val823LeufsTer8
XM_006721925.1:c.2467del	XP_006721988.1:p.Val823LeufsTer8
XM_006721926.2:c.2467del	XP_006721989.1:p.Val823LeufsTer8
XM_006721927.1:c.2467del	XP_006721990.1:p.Val823LeufsTer8
XM_006721928.2:c.2467del	XP_006721991.1:p.Val823LeufsTer8
XM_011524852.1:c.2464del	XP_011523154.1:p.Val822LeufsTer8
XM_011524853.1:c.2428del	XP_011523155.1:p.Val810LeufsTer8
XM_011524854.1:c.2428del	XP_011523156.1:p.Val810LeufsTer8
XM_011524855.1:c.2428del	XP_011523157.1:p.Val810LeufsTer8
XM_011524856.1:c.2428del	XP_011523158.1:p.Val810LeufsTer8
XM_011524857.1:c.2467del	XP_011523159.1:p.Val823LeufsTer8
NM_001042492.3:c.2437del MANE Select	NP_001035957.1:p.Val813LeufsTer8