Canonical Allele Identifier: CA2739267437

Gene: NF1

Linked Data

• ClinVar Variation Id: 2857022
• ClinVar RCV Id: RCV003599855

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338789_31338813del , CM000679.2:g.31338789_31338813del	GRCh38
NC_000017.10:g.29665807_29665831del , CM000679.1:g.29665807_29665831del	GRCh37
NC_000017.9:g.26689933_26689957del	NCBI36
NG_009018.1:g.248813_248837del , LRG_214:g.248813_248837del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.6887_6903+8del
ENST00000684826.1:c.1469_1485+8del
ENST00000684998.1:n.2727_2751del
ENST00000687027.1:c.1061_1077+8del
ENST00000687863.1:n.3550_3566+8del
ENST00000691014.1:c.6935_6951+8del
ENST00000693617.1:c.1469_1485+8del
ENST00000358273.9:c.6905_6921+8del
ENST00000356175.7:c.6842_6858+8del
ENST00000358273.8:c.6905_6921+8del
ENST00000456735.6:c.5840_5856+8del
ENST00000471572.6:c.288_304+8del
ENST00000579081.5:c.7041_7057+8del
ENST00000581790.5:c.64+909_64+933del
ENST00000584328.1:n.319_335+8del
NM_000267.3:c.6842_6858+8del , LRG_214t1:c.6842_6858+8del
NM_001042492.2:c.6905_6921+8del , LRG_214t2:c.6905_6921+8del
XM_005257983.1:c.6905_6921+8del
XM_005257984.1:c.6842_6858+8del
XM_006721922.1:c.6935_6951+8del
XM_006721923.2:c.6896_6912+8del
XM_006721924.1:c.6935_6951+8del
XM_006721925.1:c.6872_6888+8del
XM_006721926.2:c.6935_6951+8del
XM_006721927.1:c.6935_6951+8del
XM_011524852.1:c.6932_6948+8del
XM_011524853.1:c.6896_6912+8del
XM_011524854.1:c.6896_6912+8del
XM_011524855.1:c.6896_6912+8del
XM_011524856.1:c.6896_6912+8del
XM_011524857.1:c.6935_6951+8del
NM_001042492.3:c.6905_6921+8del