Canonical Allele Identifier: CA645601108

Gene: NF2

Linked Data

• COSMIC: COSM22295

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29671908_29671932del , CM000684.2:g.29671908_29671932del	GRCh38
NC_000022.10:g.30067897_30067921del , CM000684.1:g.30067897_30067921del	GRCh37
NC_000022.9:g.28397897_28397921del	NCBI36
NG_009057.1:g.73353_73377del , LRG_511:g.73353_73377del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.947_971del	ENSP00000354529.6:p.Leu316ArgfsTer6
ENST00000673312.2:c.*576_*600del	ENSP00000500186.2:n.*576_*600del
ENST00000338641.10:c.1082_1106del MANE Select	ENSP00000344666.5:p.Leu361ArgfsTer6
ENST00000361166.9:c.500_524del	ENSP00000354529.5:p.Leu167ArgfsTer6
ENST00000672461.1:c.1082_1106del	ENSP00000500919.1:p.Leu361ArgfsTer6
ENST00000672805.1:c.*964_*988del	ENSP00000500295.1:n.*964_*988del
ENST00000672896.1:c.1082_1106del	ENSP00000500117.1:p.Leu361ArgfsTer6
ENST00000673312.1:c.1101_1125del	ENSP00000500186.1:n.1101_1125del
ENST00000334961.11:c.833_857del	ENSP00000335652.7:p.Leu278ArgfsTer6
ENST00000338641.8:c.1082_1106del	ENSP00000344666.4:p.Leu361ArgfsTer6
ENST00000353887.8:c.833_857del	ENSP00000340626.4:p.Leu278ArgfsTer6
ENST00000361166.8:c.1082_1106del	ENSP00000354529.4:p.Leu361ArgfsTer6
ENST00000361452.8:c.959_983del	ENSP00000354897.4:p.Leu320ArgfsTer6
ENST00000361676.8:c.956_980del	ENSP00000355183.4:p.Leu319ArgfsTer6
ENST00000397789.3:c.1082_1106del	ENSP00000380891.3:p.Leu361ArgfsTer6
ENST00000403435.5:c.1000-5_1019del
ENST00000403999.7:c.1082_1106del	ENSP00000384797.3:p.Leu361ArgfsTer6
ENST00000413209.6:c.448-22844_448-22820del	ENSP00000409921.2:n.448-22844_448-22820de...
ENST00000432151.5:c.523-2928_523-2904del	ENSP00000395885.1:n.523-2928_523-2904del
NM_000268.3:c.1082_1106del , LRG_511t1:c.1082_1106del	NP_000259.1:p.Leu361ArgfsTer6
NM_016418.5:c.1082_1106del , LRG_511t2:c.1082_1106del	NP_057502.2:p.Leu361ArgfsTer6
NM_181825.2:c.1082_1106del	NP_861546.1:p.Leu361ArgfsTer6
NM_181828.2:c.956_980del	NP_861966.1:p.Leu319ArgfsTer6
NM_181829.2:c.959_983del	NP_861967.1:p.Leu320ArgfsTer6
NM_181830.2:c.833_857del	NP_861968.1:p.Leu278ArgfsTer6
NM_181831.2:c.833_857del	NP_861969.1:p.Leu278ArgfsTer6
NM_181832.2:c.1082_1106del	NP_861970.1:p.Leu361ArgfsTer6
NM_181833.2:c.448-22844_448-22820del	NP_861971.1:n.448-22844_448-22820del
NR_156186.1:n.1641_1665del
XM_017028809.2:c.968_992del	XP_016884298.1:p.Leu323ArgfsTer6
XM_017028810.1:c.968_992del	XP_016884299.1:p.Leu323ArgfsTer6
NM_000268.4:c.1082_1106del MANE Select	NP_000259.1:p.Leu361ArgfsTer6
NM_181825.3:c.1082_1106del	NP_861546.1:p.Leu361ArgfsTer6
NM_181828.3:c.956_980del	NP_861966.1:p.Leu319ArgfsTer6
NM_181829.3:c.959_983del	NP_861967.1:p.Leu320ArgfsTer6
NM_181830.3:c.833_857del	NP_861968.1:p.Leu278ArgfsTer6
NM_181831.3:c.833_857del	NP_861969.1:p.Leu278ArgfsTer6
NM_181832.3:c.1082_1106del	NP_861970.1:p.Leu361ArgfsTer6
NR_156186.2:n.1564_1588del
NM_181833.3:c.448-22844_448-22820del	NP_861971.1:n.448-22844_448-22820del