Canonical Allele Identifier: CA2739265559

Gene: NF1

Linked Data

• ClinVar Variation Id: 2817761
• ClinVar RCV Id: RCV003599124

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343067del , CM000679.2:g.31343067del	GRCh38
NC_000017.10:g.29670085del , CM000679.1:g.29670085del	GRCh37
NC_000017.9:g.26694211del	NCBI36
NG_009018.1:g.253091del , LRG_214:g.253091del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7103del	ENSP00000512431.1:p.Met2368ArgfsTer22
ENST00000684826.1:c.1685del	ENSP00000509994.1:p.Met562ArgfsTer22
ENST00000687027.1:c.1277del	ENSP00000508715.1:p.Met426ArgfsTer22
ENST00000687863.1:n.3766del
ENST00000689464.1:c.60del
ENST00000691014.1:c.7151del	ENSP00000510595.1:p.Met2384ArgfsTer22
ENST00000693617.1:c.1685del	ENSP00000510031.1:p.Met562ArgfsTer22
ENST00000358273.9:c.7121del MANE Select	ENSP00000351015.4:p.Met2374ArgfsTer22
ENST00000356175.7:c.7058del	ENSP00000348498.3:p.Met2353ArgfsTer22
ENST00000358273.8:c.7121del	ENSP00000351015.4:p.Met2374ArgfsTer22
ENST00000456735.6:c.6056del	ENSP00000389907.2:p.Met2019ArgfsTer22
ENST00000471572.6:c.504del
ENST00000579081.5:c.7257del	ENSP00000462408.1:n.7257del
ENST00000581790.5:c.264del
ENST00000582892.1:n.363del
ENST00000584328.1:n.535del
NM_000267.3:c.7058del , LRG_214t1:c.7058del	NP_000258.1:p.Met2353ArgfsTer22
NM_001042492.2:c.7121del , LRG_214t2:c.7121del	NP_001035957.1:p.Met2374ArgfsTer22
XM_005257983.1:c.7121del	XP_005258040.1:p.Met2374ArgfsTer22
XM_005257984.1:c.7058del	XP_005258041.1:p.Met2353ArgfsTer22
XM_006721922.1:c.7151del	XP_006721985.1:p.Met2384ArgfsTer22
XM_006721923.2:c.7112del	XP_006721986.1:p.Met2371ArgfsTer22
XM_006721924.1:c.7151del	XP_006721987.1:p.Met2384ArgfsTer22
XM_006721925.1:c.7088del	XP_006721988.1:p.Met2363ArgfsTer22
XM_006721926.2:c.7151del	XP_006721989.1:p.Met2384ArgfsTer22
XM_006721927.1:c.7151del	XP_006721990.1:p.Met2384ArgfsTer22
XM_011524852.1:c.7148del	XP_011523154.1:p.Met2383ArgfsTer22
XM_011524853.1:c.7112del	XP_011523155.1:p.Met2371ArgfsTer22
XM_011524854.1:c.7112del	XP_011523156.1:p.Met2371ArgfsTer22
XM_011524855.1:c.7112del	XP_011523157.1:p.Met2371ArgfsTer22
XM_011524856.1:c.7112del	XP_011523158.1:p.Met2371ArgfsTer22
XM_011524857.1:c.7151del	XP_011523159.1:p.Met2384ArgfsTer22
NM_001042492.3:c.7121del MANE Select	NP_001035957.1:p.Met2374ArgfsTer22