Canonical Allele Identifier: CA277594

Gene: NF1

Linked Data

• ClinVar Variation Id: 217056
• ClinVar RCV Id: RCV000200941
• MyVariant Identifiers: chr17:g.29526546_29532974del (hg19) ; chr17:g.31199528_31205956del (hg38)
• PubMed: PMID:26189818

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31199528_31205956del , CM000679.2:g.31199528_31205956del	GRCh38
NC_000017.10:g.29526546_29532974del , CM000679.1:g.29526546_29532974del	GRCh37
NC_000017.9:g.26550672_26557100del	NCBI36
NG_009018.1:g.109552_115980del , LRG_214:g.109552_115980del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.889-894_1261-284del
ENST00000686189.1:c.304-894_706-284del
ENST00000691014.1:c.889-894_1291-284del
ENST00000358273.9:c.889-894_1261-284del
ENST00000356175.7:c.889-894_1261-284del
ENST00000358273.8:c.889-894_1261-284del
ENST00000431387.8:c.889-894_1261-284del
ENST00000487476.5:n.1272-894_1644-284del
ENST00000495910.6:c.664-894_1036-284del
ENST00000579081.5:c.991-894_1363-284del
NM_000267.3:c.889-894_1261-284del , LRG_214t1:c.889-894_1261-284del
NM_001042492.2:c.889-894_1261-284del , LRG_214t2:c.889-894_1261-284del
NM_001128147.2:c.889-894_1261-284del
XM_005257983.1:c.889-894_1261-284del
XM_005257984.1:c.889-894_1261-284del
XM_006721922.1:c.889-894_1291-284del
XM_006721923.2:c.850-894_1252-284del
XM_006721924.1:c.889-894_1291-284del
XM_006721925.1:c.889-894_1291-284del
XM_006721926.2:c.889-894_1291-284del
XM_006721927.1:c.889-894_1291-284del
XM_006721928.2:c.889-894_1291-284del
XM_011524852.1:c.889-894_1291-284del
XM_011524853.1:c.850-894_1252-284del
XM_011524854.1:c.850-894_1252-284del
XM_011524855.1:c.850-894_1252-284del
XM_011524856.1:c.850-894_1252-284del
XM_011524857.1:c.889-894_1291-284del
NM_001042492.3:c.889-894_1261-284del
NM_001128147.3:c.889-894_1261-284del