Canonical Allele Identifier: CA2400692521

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695263_29695274delinsCGAAGCAGCCCA , CM000684.2:g.29695263_29695274delinsCGAAGCAGCCCA	GRCh38
NC_000022.10:g.30091252_30091263delinsCGAAGCAGCCCA , CM000684.1:g.30091252_30091263delinsCGAAGCAGCCCA	GRCh37
NC_000022.9:g.28421252_28421263delinsCGAAGCAGCCCA	NCBI36
NG_009057.1:g.96708_96719delinsCGAAGCAGCCCA , LRG_511:g.96708_96719delinsCGAAGCAGCCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*461_*472delinsCGAAGCAGCCCA MANE Select	ENSP00000344666.5:n.*461_*472delinsCGAAGC...
ENST00000672461.1:c.*501+20_*501+31delinsCGAAGCAGCCCA	ENSP00000500919.1:n.*501+20_*501+31delins...
ENST00000672896.1:c.*521_*532delinsCGAAGCAGCCCA	ENSP00000500117.1:n.*521_*532delinsCGAAGC...
ENST00000338641.8:c.*461_*472delinsCGAAGCAGCCCA	ENSP00000344666.4:n.*461_*472delinsCGAAGC...
ENST00000361452.8:c.*521_*532delinsCGAAGCAGCCCA	ENSP00000354897.4:n.*521_*532delinsCGAAGC...
ENST00000413209.6:c.*461_*472delinsCGAAGCAGCCCA	ENSP00000409921.2:n.*461_*472delinsCGAAGC...
NM_000268.3:c.*461_*472delinsCGAAGCAGCCCA , LRG_511t1:c.*461_*472delinsCGAAGCAGCCCA	NP_000259.1:n.*461_*472delinsCGAAGCAGCCCA...
NM_016418.5:c.*521_*532delinsCGAAGCAGCCCA , LRG_511t2:c.*521_*532delinsCGAAGCAGCCCA	NP_057502.2:n.*521_*532delinsCGAAGCAGCCCA...
NM_181828.2:c.*521_*532delinsCGAAGCAGCCCA	NP_861966.1:n.*521_*532delinsCGAAGCAGCCCA...
NM_181829.2:c.*521_*532delinsCGAAGCAGCCCA	NP_861967.1:n.*521_*532delinsCGAAGCAGCCCA...
NM_181830.2:c.*521_*532delinsCGAAGCAGCCCA	NP_861968.1:n.*521_*532delinsCGAAGCAGCCCA...
NM_181832.2:c.*536_*547delinsCGAAGCAGCCCA	NP_861970.1:n.*536_*547delinsCGAAGCAGCCCA...
NM_181833.2:c.*461_*472delinsCGAAGCAGCCCA	NP_861971.1:n.*461_*472delinsCGAAGCAGCCCA...
NR_156186.1:n.2808_2819delinsCGAAGCAGCCCA
XM_017028810.1:c.*521_*532delinsCGAAGCAGCCCA	XP_016884299.1:n.*521_*532delinsCGAAGCAGC...
NM_000268.4:c.*461_*472delinsCGAAGCAGCCCA MANE Select	NP_000259.1:n.*461_*472delinsCGAAGCAGCCCA...
NM_181828.3:c.*521_*532delinsCGAAGCAGCCCA	NP_861966.1:n.*521_*532delinsCGAAGCAGCCCA...
NM_181829.3:c.*521_*532delinsCGAAGCAGCCCA	NP_861967.1:n.*521_*532delinsCGAAGCAGCCCA...
NM_181830.3:c.*521_*532delinsCGAAGCAGCCCA	NP_861968.1:n.*521_*532delinsCGAAGCAGCCCA...
NM_181832.3:c.*536_*547delinsCGAAGCAGCCCA	NP_861970.1:n.*536_*547delinsCGAAGCAGCCCA...
NR_156186.2:n.2731_2742delinsCGAAGCAGCCCA
NM_181833.3:c.*461_*472delinsCGAAGCAGCCCA	NP_861971.1:n.*461_*472delinsCGAAGCAGCCCA...