Canonical Allele Identifier: CA2577681262

Gene: NF2

Linked Data

• gnomAD v4: 22-29675012-TTCATCTGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29675013_29675021del , CM000684.2:g.29675013_29675021del	GRCh38
NC_000022.10:g.30071002_30071010del , CM000684.1:g.30071002_30071010del	GRCh37
NC_000022.9:g.28401002_28401010del	NCBI36
NG_009057.1:g.76458_76466del , LRG_511:g.76458_76466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1311+72_1311+80del	ENSP00000354529.6:n.1311+72_1311+80del
ENST00000673312.2:c.*940+72_*940+80del	ENSP00000500186.2:n.*940+72_*940+80del
ENST00000338641.10:c.1446+72_1446+80del MANE Select	ENSP00000344666.5:n.1446+72_1446+80del
ENST00000361166.9:c.864+72_864+80del	ENSP00000354529.5:n.864+72_864+80del
ENST00000672461.1:c.1446+72_1446+80del	ENSP00000500919.1:n.1446+72_1446+80del
ENST00000672805.1:c.*1328+72_*1328+80del	ENSP00000500295.1:n.*1328+72_*1328+80del
ENST00000672896.1:c.1446+72_1446+80del	ENSP00000500117.1:n.1446+72_1446+80del
ENST00000673312.1:c.1465+72_1465+80del	ENSP00000500186.1:n.1465+72_1465+80del
ENST00000334961.11:c.1197+72_1197+80del	ENSP00000335652.7:n.1197+72_1197+80del
ENST00000338641.8:c.1446+72_1446+80del	ENSP00000344666.4:n.1446+72_1446+80del
ENST00000353887.8:c.1197+72_1197+80del	ENSP00000340626.4:n.1197+72_1197+80del
ENST00000361166.8:c.1446+72_1446+80del	ENSP00000354529.4:n.1446+72_1446+80del
ENST00000361452.8:c.1323+72_1323+80del	ENSP00000354897.4:n.1323+72_1323+80del
ENST00000361676.8:c.1320+72_1320+80del	ENSP00000355183.4:n.1320+72_1320+80del
ENST00000397789.3:c.1446+72_1446+80del	ENSP00000380891.3:n.1446+72_1446+80del
ENST00000403435.5:c.1359+72_1359+80del	ENSP00000384029.1:n.1359+72_1359+80del
ENST00000403999.7:c.1446+72_1446+80del	ENSP00000384797.3:n.1446+72_1446+80del
ENST00000413209.6:c.448-19739_448-19731del	ENSP00000409921.2:n.448-19739_448-19731del
ENST00000432151.5:c.628+72_628+80del	ENSP00000395885.1:n.628+72_628+80del
NM_000268.3:c.1446+72_1446+80del , LRG_511t1:c.1446+72_1446+80del	NP_000259.1:n.1446+72_1446+80del
NM_016418.5:c.1446+72_1446+80del , LRG_511t2:c.1446+72_1446+80del	NP_057502.2:n.1446+72_1446+80del
NM_181825.2:c.1446+72_1446+80del	NP_861546.1:n.1446+72_1446+80del
NM_181828.2:c.1320+72_1320+80del	NP_861966.1:n.1320+72_1320+80del
NM_181829.2:c.1323+72_1323+80del	NP_861967.1:n.1323+72_1323+80del
NM_181830.2:c.1197+72_1197+80del	NP_861968.1:n.1197+72_1197+80del
NM_181831.2:c.1197+72_1197+80del	NP_861969.1:n.1197+72_1197+80del
NM_181832.2:c.1446+72_1446+80del	NP_861970.1:n.1446+72_1446+80del
NM_181833.2:c.448-19739_448-19731del	NP_861971.1:n.448-19739_448-19731del
NR_156186.1:n.2005+72_2005+80del
XM_017028809.2:c.1332+72_1332+80del	XP_016884298.1:n.1332+72_1332+80del
XM_017028810.1:c.1332+72_1332+80del	XP_016884299.1:n.1332+72_1332+80del
NM_000268.4:c.1446+72_1446+80del MANE Select	NP_000259.1:n.1446+72_1446+80del
NM_181825.3:c.1446+72_1446+80del	NP_861546.1:n.1446+72_1446+80del
NM_181828.3:c.1320+72_1320+80del	NP_861966.1:n.1320+72_1320+80del
NM_181829.3:c.1323+72_1323+80del	NP_861967.1:n.1323+72_1323+80del
NM_181830.3:c.1197+72_1197+80del	NP_861968.1:n.1197+72_1197+80del
NM_181831.3:c.1197+72_1197+80del	NP_861969.1:n.1197+72_1197+80del
NM_181832.3:c.1446+72_1446+80del	NP_861970.1:n.1446+72_1446+80del
NR_156186.2:n.1928+72_1928+80del
NM_181833.3:c.448-19739_448-19731del	NP_861971.1:n.448-19739_448-19731del