Canonical Allele Identifier: CA2400675667

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29655495_29655639delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA , CM000684.2:g.29655495_29655639delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA	GRCh38
NC_000022.10:g.30051484_30051628delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA , CM000684.1:g.30051484_30051628delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA	GRCh37
NC_000022.9:g.28381484_28381628delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA	NCBI36
NG_009057.1:g.56940_57084delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA , LRG_511:g.56940_57084delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.517-99_562delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
ENST00000673312.2:c.*11-99_*56delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
ENST00000338641.10:c.517-99_562delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
ENST00000361166.9:c.70-99_115delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
ENST00000672461.1:c.517-99_562delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
ENST00000672805.1:c.*399-99_*444delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
ENST00000672896.1:c.517-99_562delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
ENST00000673312.1:c.536-99_581delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
ENST00000334961.11:c.268-99_313delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
ENST00000338641.8:c.517-99_562delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
ENST00000353887.8:c.268-99_313delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
ENST00000361166.8:c.517-99_562delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
ENST00000361452.8:c.394-99_439delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
ENST00000361676.8:c.391-99_436delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
ENST00000397789.3:c.517-99_562delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
ENST00000403435.5:c.517-99_562delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
ENST00000403999.7:c.517-99_562delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
ENST00000413209.6:c.447+13210_447+13354delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA	ENSP00000409921.2:n.447+13210_447+13354delinsTTTACTGTTTTGTAAA...
ENST00000432151.5:c.199-5710_199-5566delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA	ENSP00000395885.1:n.199-5710_199-5566delinsTTTACTGTTTTGTAAAAA...
NM_000268.3:c.517-99_562delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA , LRG_511t1:c.517-99_562delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
NM_016418.5:c.517-99_562delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA , LRG_511t2:c.517-99_562delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
NM_181825.2:c.517-99_562delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
NM_181828.2:c.391-99_436delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
NM_181829.2:c.394-99_439delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
NM_181830.2:c.268-99_313delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
NM_181831.2:c.268-99_313delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
NM_181832.2:c.517-99_562delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
NM_181833.2:c.447+13210_447+13354delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA	NP_861971.1:n.447+13210_447+13354delinsTTTACTGTTTTGTAAAAATGAT...
NR_156186.1:n.1076-99_1121delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
XM_017028809.2:c.403-99_448delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
XM_017028810.1:c.403-99_448delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
NM_000268.4:c.517-99_562delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
NM_181825.3:c.517-99_562delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
NM_181828.3:c.391-99_436delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
NM_181829.3:c.394-99_439delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
NM_181830.3:c.268-99_313delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
NM_181831.3:c.268-99_313delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
NM_181832.3:c.517-99_562delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
NR_156186.2:n.999-99_1044delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA
NM_181833.3:c.447+13210_447+13354delinsTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA	NP_861971.1:n.447+13210_447+13354delinsTTTACTGTTTTGTAAAAATGAT...