Canonical Allele Identifier: CA2573153878

Gene: NF1

Linked Data

• ClinVar Variation Id: 1467293
• ClinVar RCV Id: RCV001990735
• dbSNP Id: rs2151559288

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338764_31338790del , CM000679.2:g.31338764_31338790del	GRCh38
NC_000017.10:g.29665782_29665808del , CM000679.1:g.29665782_29665808del	GRCh37
NC_000017.9:g.26689908_26689934del	NCBI36
NG_009018.1:g.248788_248814del , LRG_214:g.248788_248814del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.6862_6888del	ENSP00000512431.1:p.Thr2288_Gln2296del
ENST00000684826.1:c.1444_1470del	ENSP00000509994.1:p.Thr482_Gln490del
ENST00000684998.1:n.2702_2728del
ENST00000687027.1:c.1036_1062del	ENSP00000508715.1:p.Thr346_Gln354del
ENST00000687863.1:n.3525_3551del
ENST00000691014.1:c.6910_6936del	ENSP00000510595.1:p.Thr2304_Gln2312del
ENST00000693617.1:c.1444_1470del	ENSP00000510031.1:p.Thr482_Gln490del
ENST00000358273.9:c.6880_6906del MANE Select	ENSP00000351015.4:p.Thr2294_Gln2302del
ENST00000356175.7:c.6817_6843del	ENSP00000348498.3:p.Thr2273_Gln2281del
ENST00000358273.8:c.6880_6906del	ENSP00000351015.4:p.Thr2294_Gln2302del
ENST00000456735.6:c.5815_5841del	ENSP00000389907.2:p.Thr1939_Gln1947del
ENST00000471572.6:c.263_289del
ENST00000579081.5:c.7016_7042del	ENSP00000462408.1:n.7016_7042del
ENST00000581790.5:c.64+884_64+910del
ENST00000584328.1:n.294_320del
NM_000267.3:c.6817_6843del , LRG_214t1:c.6817_6843del	NP_000258.1:p.Thr2273_Gln2281del
NM_001042492.2:c.6880_6906del , LRG_214t2:c.6880_6906del	NP_001035957.1:p.Thr2294_Gln2302del
XM_005257983.1:c.6880_6906del	XP_005258040.1:p.Thr2294_Gln2302del
XM_005257984.1:c.6817_6843del	XP_005258041.1:p.Thr2273_Gln2281del
XM_006721922.1:c.6910_6936del	XP_006721985.1:p.Thr2304_Gln2312del
XM_006721923.2:c.6871_6897del	XP_006721986.1:p.Thr2291_Gln2299del
XM_006721924.1:c.6910_6936del	XP_006721987.1:p.Thr2304_Gln2312del
XM_006721925.1:c.6847_6873del	XP_006721988.1:p.Thr2283_Gln2291del
XM_006721926.2:c.6910_6936del	XP_006721989.1:p.Thr2304_Gln2312del
XM_006721927.1:c.6910_6936del	XP_006721990.1:p.Thr2304_Gln2312del
XM_011524852.1:c.6907_6933del	XP_011523154.1:p.Thr2303_Gln2311del
XM_011524853.1:c.6871_6897del	XP_011523155.1:p.Thr2291_Gln2299del
XM_011524854.1:c.6871_6897del	XP_011523156.1:p.Thr2291_Gln2299del
XM_011524855.1:c.6871_6897del	XP_011523157.1:p.Thr2291_Gln2299del
XM_011524856.1:c.6871_6897del	XP_011523158.1:p.Thr2291_Gln2299del
XM_011524857.1:c.6910_6936del	XP_011523159.1:p.Thr2304_Gln2312del
NM_001042492.3:c.6880_6906del MANE Select	NP_001035957.1:p.Thr2294_Gln2302del