Canonical Allele Identifier: CA169766

Gene: NF1

Linked Data

• ClinVar Variation Id: 142920
• ClinVar RCV Id: RCV000132393 ; RCV002514754
• dbSNP Id: rs587782819
• MyVariant Identifiers: chr17:g.29665821_29665823del (hg19) ; chr17:g.31338803_31338805del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338803_31338805del , CM000679.2:g.31338803_31338805del	GRCh38
NC_000017.10:g.29665821_29665823del , CM000679.1:g.29665821_29665823del	GRCh37
NC_000017.9:g.26689947_26689949del	NCBI36
NG_009018.1:g.248827_248829del , LRG_214:g.248827_248829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6901_6903del	ENSP00000512431.1:p.Lys2301del
ENST00000684826.1:c.1483_1485del	ENSP00000509994.1:p.Lys495del
ENST00000684998.1:n.2741_2743del
ENST00000687027.1:c.1075_1077del	ENSP00000508715.1:p.Lys359del
ENST00000687863.1:n.3564_3566del
ENST00000691014.1:c.6949_6951del	ENSP00000510595.1:p.Lys2317del
ENST00000693617.1:c.1483_1485del	ENSP00000510031.1:p.Lys495del
ENST00000358273.9:c.6919_6921del MANE Select	ENSP00000351015.4:p.Lys2307del
ENST00000356175.7:c.6856_6858del	ENSP00000348498.3:p.Lys2286del
ENST00000358273.8:c.6919_6921del	ENSP00000351015.4:p.Lys2307del
ENST00000456735.6:c.5854_5856del	ENSP00000389907.2:p.Lys1952del
ENST00000471572.6:c.302_304del
ENST00000579081.5:c.7055_7057del	ENSP00000462408.1:n.7055_7057del
ENST00000581790.5:c.64+923_64+925del
ENST00000584328.1:n.333_335del
NM_000267.3:c.6856_6858del , LRG_214t1:c.6856_6858del	NP_000258.1:p.Lys2286del
NM_001042492.2:c.6919_6921del , LRG_214t2:c.6919_6921del	NP_001035957.1:p.Lys2307del
XM_005257983.1:c.6919_6921del	XP_005258040.1:p.Lys2307del
XM_005257984.1:c.6856_6858del	XP_005258041.1:p.Lys2286del
XM_006721922.1:c.6949_6951del	XP_006721985.1:p.Lys2317del
XM_006721923.2:c.6910_6912del	XP_006721986.1:p.Lys2304del
XM_006721924.1:c.6949_6951del	XP_006721987.1:p.Lys2317del
XM_006721925.1:c.6886_6888del	XP_006721988.1:p.Lys2296del
XM_006721926.2:c.6949_6951del	XP_006721989.1:p.Lys2317del
XM_006721927.1:c.6949_6951del	XP_006721990.1:p.Lys2317del
XM_011524852.1:c.6946_6948del	XP_011523154.1:p.Lys2316del
XM_011524853.1:c.6910_6912del	XP_011523155.1:p.Lys2304del
XM_011524854.1:c.6910_6912del	XP_011523156.1:p.Lys2304del
XM_011524855.1:c.6910_6912del	XP_011523157.1:p.Lys2304del
XM_011524856.1:c.6910_6912del	XP_011523158.1:p.Lys2304del
XM_011524857.1:c.6949_6951del	XP_011523159.1:p.Lys2317del
NM_001042492.3:c.6919_6921del MANE Select	NP_001035957.1:p.Lys2307del