Canonical Allele Identifier: CA915949969

Gene: NF1

Linked Data

• ClinVar Variation Id: 662994
• ClinVar RCV Id: RCV000820767
• dbSNP Id: rs1597845926

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338719_31338720dup , CM000679.2:g.31338719_31338720dup	GRCh38
NC_000017.10:g.29665737_29665738dup , CM000679.1:g.29665737_29665738dup	GRCh37
NC_000017.9:g.26689863_26689864dup	NCBI36
NG_009018.1:g.248743_248744dup , LRG_214:g.248743_248744dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6817_6818dup	ENSP00000512431.1:p.Leu2273PhefsTer2
ENST00000684826.1:c.1399_1400dup	ENSP00000509994.1:p.Leu467PhefsTer2
ENST00000684998.1:n.2657_2658dup
ENST00000687027.1:c.991_992dup	ENSP00000508715.1:p.Leu331PhefsTer2
ENST00000687863.1:n.3480_3481dup
ENST00000691014.1:c.6865_6866dup	ENSP00000510595.1:p.Leu2289PhefsTer2
ENST00000693617.1:c.1399_1400dup	ENSP00000510031.1:p.Leu467PhefsTer2
ENST00000358273.9:c.6835_6836dup MANE Select	ENSP00000351015.4:p.Leu2279PhefsTer2
ENST00000356175.7:c.6772_6773dup	ENSP00000348498.3:p.Leu2258PhefsTer2
ENST00000358273.8:c.6835_6836dup	ENSP00000351015.4:p.Leu2279PhefsTer2
ENST00000456735.6:c.5770_5771dup	ENSP00000389907.2:p.Leu1924PhefsTer2
ENST00000471572.6:c.218_219dup
ENST00000579081.5:c.6971_6972dup	ENSP00000462408.1:n.6971_6972dup
ENST00000581790.5:c.64+839_64+840dup
ENST00000584328.1:n.249_250dup
NM_000267.3:c.6772_6773dup , LRG_214t1:c.6772_6773dup	NP_000258.1:p.Leu2258PhefsTer2
NM_001042492.2:c.6835_6836dup , LRG_214t2:c.6835_6836dup	NP_001035957.1:p.Leu2279PhefsTer2
XM_005257983.1:c.6835_6836dup	XP_005258040.1:p.Leu2279PhefsTer2
XM_005257984.1:c.6772_6773dup	XP_005258041.1:p.Leu2258PhefsTer2
XM_006721922.1:c.6865_6866dup	XP_006721985.1:p.Leu2289PhefsTer2
XM_006721923.2:c.6826_6827dup	XP_006721986.1:p.Leu2276PhefsTer2
XM_006721924.1:c.6865_6866dup	XP_006721987.1:p.Leu2289PhefsTer2
XM_006721925.1:c.6802_6803dup	XP_006721988.1:p.Leu2268PhefsTer2
XM_006721926.2:c.6865_6866dup	XP_006721989.1:p.Leu2289PhefsTer2
XM_006721927.1:c.6865_6866dup	XP_006721990.1:p.Leu2289PhefsTer2
XM_011524852.1:c.6862_6863dup	XP_011523154.1:p.Leu2288PhefsTer2
XM_011524853.1:c.6826_6827dup	XP_011523155.1:p.Leu2276PhefsTer2
XM_011524854.1:c.6826_6827dup	XP_011523156.1:p.Leu2276PhefsTer2
XM_011524855.1:c.6826_6827dup	XP_011523157.1:p.Leu2276PhefsTer2
XM_011524856.1:c.6826_6827dup	XP_011523158.1:p.Leu2276PhefsTer2
XM_011524857.1:c.6865_6866dup	XP_011523159.1:p.Leu2289PhefsTer2
NM_001042492.3:c.6835_6836dup MANE Select	NP_001035957.1:p.Leu2279PhefsTer2