Canonical Allele Identifier: CA2255603150

Gene: NF1

Linked Data

• ClinVar Variation Id: 1003143
• ClinVar RCV Id: RCV001299663
• dbSNP Id: rs2069744859

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338770_31338787del , CM000679.2:g.31338770_31338787del	GRCh38
NC_000017.10:g.29665788_29665805del , CM000679.1:g.29665788_29665805del	GRCh37
NC_000017.9:g.26689914_26689931del	NCBI36
NG_009018.1:g.248794_248811del , LRG_214:g.248794_248811del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6868_6885del	ENSP00000512431.1:p.Ile2290_Leu2295del
ENST00000684826.1:c.1450_1467del	ENSP00000509994.1:p.Ile484_Leu489del
ENST00000684998.1:n.2708_2725del
ENST00000687027.1:c.1042_1059del	ENSP00000508715.1:p.Ile348_Leu353del
ENST00000687863.1:n.3531_3548del
ENST00000691014.1:c.6916_6933del	ENSP00000510595.1:p.Ile2306_Leu2311del
ENST00000693617.1:c.1450_1467del	ENSP00000510031.1:p.Ile484_Leu489del
ENST00000358273.9:c.6886_6903del MANE Select	ENSP00000351015.4:p.Ile2296_Leu2301del
ENST00000356175.7:c.6823_6840del	ENSP00000348498.3:p.Ile2275_Leu2280del
ENST00000358273.8:c.6886_6903del	ENSP00000351015.4:p.Ile2296_Leu2301del
ENST00000456735.6:c.5821_5838del	ENSP00000389907.2:p.Ile1941_Leu1946del
ENST00000471572.6:c.269_286del
ENST00000579081.5:c.7022_7039del	ENSP00000462408.1:n.7022_7039del
ENST00000581790.5:c.64+890_64+907del
ENST00000584328.1:n.300_317del
NM_000267.3:c.6823_6840del , LRG_214t1:c.6823_6840del	NP_000258.1:p.Ile2275_Leu2280del
NM_001042492.2:c.6886_6903del , LRG_214t2:c.6886_6903del	NP_001035957.1:p.Ile2296_Leu2301del
XM_005257983.1:c.6886_6903del	XP_005258040.1:p.Ile2296_Leu2301del
XM_005257984.1:c.6823_6840del	XP_005258041.1:p.Ile2275_Leu2280del
XM_006721922.1:c.6916_6933del	XP_006721985.1:p.Ile2306_Leu2311del
XM_006721923.2:c.6877_6894del	XP_006721986.1:p.Ile2293_Leu2298del
XM_006721924.1:c.6916_6933del	XP_006721987.1:p.Ile2306_Leu2311del
XM_006721925.1:c.6853_6870del	XP_006721988.1:p.Ile2285_Leu2290del
XM_006721926.2:c.6916_6933del	XP_006721989.1:p.Ile2306_Leu2311del
XM_006721927.1:c.6916_6933del	XP_006721990.1:p.Ile2306_Leu2311del
XM_011524852.1:c.6913_6930del	XP_011523154.1:p.Ile2305_Leu2310del
XM_011524853.1:c.6877_6894del	XP_011523155.1:p.Ile2293_Leu2298del
XM_011524854.1:c.6877_6894del	XP_011523156.1:p.Ile2293_Leu2298del
XM_011524855.1:c.6877_6894del	XP_011523157.1:p.Ile2293_Leu2298del
XM_011524856.1:c.6877_6894del	XP_011523158.1:p.Ile2293_Leu2298del
XM_011524857.1:c.6916_6933del	XP_011523159.1:p.Ile2306_Leu2311del
NM_001042492.3:c.6886_6903del MANE Select	NP_001035957.1:p.Ile2296_Leu2301del