Canonical Allele Identifier: CA2255603112

Gene: NF1

Linked Data

• ClinVar Variation Id: 996394
• ClinVar RCV Id: RCV001290798
• dbSNP Id: rs2069742524

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338713_31338714del , CM000679.2:g.31338713_31338714del	GRCh38
NC_000017.10:g.29665731_29665732del , CM000679.1:g.29665731_29665732del	GRCh37
NC_000017.9:g.26689857_26689858del	NCBI36
NG_009018.1:g.248737_248738del , LRG_214:g.248737_248738del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.6811_6812del	ENSP00000512431.1:p.Ser2271LeufsTer6
ENST00000684826.1:c.1393_1394del	ENSP00000509994.1:p.Ser465LeufsTer6
ENST00000684998.1:n.2651_2652del
ENST00000687027.1:c.985_986del	ENSP00000508715.1:p.Ser329LeufsTer6
ENST00000687863.1:n.3474_3475del
ENST00000691014.1:c.6859_6860del	ENSP00000510595.1:p.Ser2287LeufsTer6
ENST00000693617.1:c.1393_1394del	ENSP00000510031.1:p.Ser465LeufsTer6
ENST00000358273.9:c.6829_6830del MANE Select	ENSP00000351015.4:p.Ser2277LeufsTer6
ENST00000356175.7:c.6766_6767del	ENSP00000348498.3:p.Ser2256LeufsTer6
ENST00000358273.8:c.6829_6830del	ENSP00000351015.4:p.Ser2277LeufsTer6
ENST00000456735.6:c.5764_5765del	ENSP00000389907.2:p.Ser1922LeufsTer6
ENST00000471572.6:c.212_213del
ENST00000579081.5:c.6965_6966del	ENSP00000462408.1:n.6965_6966del
ENST00000581790.5:c.64+833_64+834del
ENST00000584328.1:n.243_244del
NM_000267.3:c.6766_6767del , LRG_214t1:c.6766_6767del	NP_000258.1:p.Ser2256LeufsTer6
NM_001042492.2:c.6829_6830del , LRG_214t2:c.6829_6830del	NP_001035957.1:p.Ser2277LeufsTer6
XM_005257983.1:c.6829_6830del	XP_005258040.1:p.Ser2277LeufsTer6
XM_005257984.1:c.6766_6767del	XP_005258041.1:p.Ser2256LeufsTer6
XM_006721922.1:c.6859_6860del	XP_006721985.1:p.Ser2287LeufsTer6
XM_006721923.2:c.6820_6821del	XP_006721986.1:p.Ser2274LeufsTer6
XM_006721924.1:c.6859_6860del	XP_006721987.1:p.Ser2287LeufsTer6
XM_006721925.1:c.6796_6797del	XP_006721988.1:p.Ser2266LeufsTer6
XM_006721926.2:c.6859_6860del	XP_006721989.1:p.Ser2287LeufsTer6
XM_006721927.1:c.6859_6860del	XP_006721990.1:p.Ser2287LeufsTer6
XM_011524852.1:c.6856_6857del	XP_011523154.1:p.Ser2286LeufsTer6
XM_011524853.1:c.6820_6821del	XP_011523155.1:p.Ser2274LeufsTer6
XM_011524854.1:c.6820_6821del	XP_011523156.1:p.Ser2274LeufsTer6
XM_011524855.1:c.6820_6821del	XP_011523157.1:p.Ser2274LeufsTer6
XM_011524856.1:c.6820_6821del	XP_011523158.1:p.Ser2274LeufsTer6
XM_011524857.1:c.6859_6860del	XP_011523159.1:p.Ser2287LeufsTer6
NM_001042492.3:c.6829_6830del MANE Select	NP_001035957.1:p.Ser2277LeufsTer6