Canonical Allele Identifier: CA1024928145

Gene: NF2

Linked Data

• gnomAD v3: 22-29696808-TTCTG-T
• gnomAD v4: 22-29696808-TTCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696810_29696813del , CM000684.2:g.29696810_29696813del	GRCh38
NC_000022.10:g.30092799_30092802del , CM000684.1:g.30092799_30092802del	GRCh37
NC_000022.9:g.28422799_28422802del	NCBI36
NG_009057.1:g.98255_98258del , LRG_511:g.98255_98258del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*2008_*2011del MANE Select	ENSP00000344666.5:n.*2008_*2011del
ENST00000672461.1:c.*502-451_*502-448del	ENSP00000500919.1:n.*502-451_*502-448del
ENST00000672896.1:c.*2068_*2071del	ENSP00000500117.1:n.*2068_*2071del
ENST00000338641.8:c.*2008_*2011del	ENSP00000344666.4:n.*2008_*2011del
ENST00000361452.8:c.*2068_*2071del	ENSP00000354897.4:n.*2068_*2071del
ENST00000413209.6:c.*2008_*2011del	ENSP00000409921.2:n.*2008_*2011del
NM_000268.3:c.*2008_*2011del , LRG_511t1:c.*2008_*2011del	NP_000259.1:n.*2008_*2011del
NM_016418.5:c.*2068_*2071del , LRG_511t2:c.*2068_*2071del	NP_057502.2:n.*2068_*2071del
NM_181828.2:c.*2068_*2071del	NP_861966.1:n.*2068_*2071del
NM_181829.2:c.*2068_*2071del	NP_861967.1:n.*2068_*2071del
NM_181830.2:c.*2068_*2071del	NP_861968.1:n.*2068_*2071del
NM_181832.2:c.*2083_*2086del	NP_861970.1:n.*2083_*2086del
NM_181833.2:c.*2008_*2011del	NP_861971.1:n.*2008_*2011del
NR_156186.1:n.4355_4358del
XM_017028810.1:c.*2068_*2071del	XP_016884299.1:n.*2068_*2071del
NM_000268.4:c.*2008_*2011del MANE Select	NP_000259.1:n.*2008_*2011del
NM_181828.3:c.*2068_*2071del	NP_861966.1:n.*2068_*2071del
NM_181829.3:c.*2068_*2071del	NP_861967.1:n.*2068_*2071del
NM_181830.3:c.*2068_*2071del	NP_861968.1:n.*2068_*2071del
NM_181832.3:c.*2083_*2086del	NP_861970.1:n.*2083_*2086del
NR_156186.2:n.4278_4281del
NM_181833.3:c.*2008_*2011del	NP_861971.1:n.*2008_*2011del