Canonical Allele Identifier: CA658658589

Gene: NF1

Linked Data

• ClinVar Variation Id: 451371
• ClinVar RCV Id: RCV000518990
• dbSNP Id: rs1555534948
• MyVariant Identifiers: chr17:g.29665051_29665053del (hg19) ; chr17:g.31338033_31338035del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338033_31338035del , CM000679.2:g.31338033_31338035del	GRCh38
NC_000017.10:g.29665051_29665053del , CM000679.1:g.29665051_29665053del	GRCh37
NC_000017.9:g.26689177_26689179del	NCBI36
NG_009018.1:g.248057_248059del , LRG_214:g.248057_248059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6695_6697del	ENSP00000512431.1:p.Phe2232Ter
ENST00000684826.1:c.1277_1279del	ENSP00000509994.1:p.Phe426Ter
ENST00000684998.1:n.1971_1973del
ENST00000687027.1:c.869_871del	ENSP00000508715.1:p.Phe290Ter
ENST00000687863.1:n.3358_3360del
ENST00000691014.1:c.6743_6745del	ENSP00000510595.1:p.Phe2248Ter
ENST00000693617.1:c.1277_1279del	ENSP00000510031.1:p.Phe426Ter
ENST00000358273.9:c.6713_6715del MANE Select	ENSP00000351015.4:p.Phe2238Ter
ENST00000356175.7:c.6650_6652del	ENSP00000348498.3:p.Phe2217Ter
ENST00000358273.8:c.6713_6715del	ENSP00000351015.4:p.Phe2238Ter
ENST00000456735.6:c.5648_5650del	ENSP00000389907.2:p.Phe1883Ter
ENST00000471572.6:c.96_98del
ENST00000579081.5:c.6849_6851del	ENSP00000462408.1:n.6849_6851del
ENST00000581790.5:c.64+153_64+155del
ENST00000584328.1:n.127_129del
NM_000267.3:c.6650_6652del , LRG_214t1:c.6650_6652del	NP_000258.1:p.Phe2217Ter
NM_001042492.2:c.6713_6715del , LRG_214t2:c.6713_6715del	NP_001035957.1:p.Phe2238Ter
XM_005257983.1:c.6713_6715del	XP_005258040.1:p.Phe2238Ter
XM_005257984.1:c.6650_6652del	XP_005258041.1:p.Phe2217Ter
XM_006721922.1:c.6743_6745del	XP_006721985.1:p.Phe2248Ter
XM_006721923.2:c.6704_6706del	XP_006721986.1:p.Phe2235Ter
XM_006721924.1:c.6743_6745del	XP_006721987.1:p.Phe2248Ter
XM_006721925.1:c.6680_6682del	XP_006721988.1:p.Phe2227Ter
XM_006721926.2:c.6743_6745del	XP_006721989.1:p.Phe2248Ter
XM_006721927.1:c.6743_6745del	XP_006721990.1:p.Phe2248Ter
XM_011524852.1:c.6740_6742del	XP_011523154.1:p.Phe2247Ter
XM_011524853.1:c.6704_6706del	XP_011523155.1:p.Phe2235Ter
XM_011524854.1:c.6704_6706del	XP_011523156.1:p.Phe2235Ter
XM_011524855.1:c.6704_6706del	XP_011523157.1:p.Phe2235Ter
XM_011524856.1:c.6704_6706del	XP_011523158.1:p.Phe2235Ter
XM_011524857.1:c.6743_6745del	XP_011523159.1:p.Phe2248Ter
NM_001042492.3:c.6713_6715del MANE Select	NP_001035957.1:p.Phe2238Ter