Canonical Allele Identifier: CA277543

Gene: NF1

Linked Data

• ClinVar Variation Id: 217094
• ClinVar RCV Id: RCV000200884
• MyVariant Identifiers: chr17:g.29661482_29663175del (hg19) ; chr17:g.31334464_31336157del (hg38)
• PubMed: PMID:26189818

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31334464_31336157del , CM000679.2:g.31334464_31336157del	GRCh38
NC_000017.10:g.29661482_29663175del , CM000679.1:g.29661482_29663175del	GRCh37
NC_000017.9:g.26685608_26687301del	NCBI36
NG_009018.1:g.244488_246181del , LRG_214:g.244488_246181del

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.2001-374_2195-176del
ENST00000696138.1:c.5795-374_5989-176del
ENST00000684826.1:c.377-374_571-176del
ENST00000687027.1:c.-32-374_163-176del
ENST00000687863.1:n.2458-374_2652-176del
ENST00000691014.1:c.5843-374_6037-176del
ENST00000693617.1:c.377-374_571-176del
ENST00000358273.9:c.5813-374_6007-176del
ENST00000356175.7:c.5750-374_5944-176del
ENST00000358273.8:c.5813-374_6007-176del
ENST00000456735.6:c.4748-374_4942-176del
ENST00000479536.2:c.171-200_432-176del
ENST00000579081.5:c.5949-374_6143-176del
ENST00000581113.6:n.1130-374_1324-176del
NM_000267.3:c.5750-374_5944-176del , LRG_214t1:c.5750-374_5944-176del
NM_001042492.2:c.5813-374_6007-176del , LRG_214t2:c.5813-374_6007-176del
XM_005257983.1:c.5813-374_6007-176del
XM_005257984.1:c.5750-374_5944-176del
XM_006721922.1:c.5843-374_6037-176del
XM_006721923.2:c.5804-374_5998-176del
XM_006721924.1:c.5843-374_6037-176del
XM_006721925.1:c.5780-374_5974-176del
XM_006721926.2:c.5843-374_6037-176del
XM_006721927.1:c.5843-374_6037-176del
XM_011524852.1:c.5840-374_6034-176del
XM_011524853.1:c.5804-374_5998-176del
XM_011524854.1:c.5804-374_5998-176del
XM_011524855.1:c.5804-374_5998-176del
XM_011524856.1:c.5804-374_5998-176del
XM_011524857.1:c.5843-374_6037-176del
NM_001042492.3:c.5813-374_6007-176del