Canonical Allele Identifier: CA277547

Gene: NF1

Linked Data

• ClinVar Variation Id: 217037
• ClinVar RCV Id: RCV000200888
• MyVariant Identifiers: chr17:g.29484744_29489260del (hg19) ; chr17:g.31157726_31162242del (hg38)
• PubMed: PMID:26189818

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31157726_31162242del , CM000679.2:g.31157726_31162242del	GRCh38
NC_000017.10:g.29484744_29489260del , CM000679.1:g.29484744_29489260del	GRCh37
NC_000017.9:g.26508870_26513386del	NCBI36
NG_009018.1:g.67750_72266del , LRG_214:g.67750_72266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.205-1284_289-944del
ENST00000691014.1:c.205-1284_289-944del
ENST00000358273.9:c.205-1284_289-944del
ENST00000356175.7:c.205-1284_289-944del
ENST00000358273.8:c.205-1284_289-944del
ENST00000431387.8:c.205-1284_289-944del
ENST00000487476.5:n.588-1284_672-944del
ENST00000489712.6:c.4-1284_88-944del
ENST00000495910.6:c.87-1284_171-944del
ENST00000579081.5:c.307-1284_391-944del
NM_000267.3:c.205-1284_289-944del , LRG_214t1:c.205-1284_289-944del
NM_001042492.2:c.205-1284_289-944del , LRG_214t2:c.205-1284_289-944del
NM_001128147.2:c.205-1284_289-944del
XM_005257983.1:c.205-1284_289-944del
XM_005257984.1:c.205-1284_289-944del
XM_006721922.1:c.205-1284_289-944del
XM_006721923.2:c.166-1284_250-944del
XM_006721924.1:c.205-1284_289-944del
XM_006721925.1:c.205-1284_289-944del
XM_006721926.2:c.205-1284_289-944del
XM_006721927.1:c.205-1284_289-944del
XM_006721928.2:c.205-1284_289-944del
XM_011524852.1:c.205-1284_289-944del
XM_011524853.1:c.166-1284_250-944del
XM_011524854.1:c.166-1284_250-944del
XM_011524855.1:c.166-1284_250-944del
XM_011524856.1:c.166-1284_250-944del
XM_011524857.1:c.205-1284_289-944del
NM_001042492.3:c.205-1284_289-944del
NM_001128147.3:c.205-1284_289-944del