Canonical Allele Identifier: CA2695105260

Gene: MECP2

Linked Data

• gnomAD v4: X-154097523-GCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097525_154097586del , CM000685.2:g.154097525_154097586del	GRCh38
NC_000023.10:g.153362982_153363043del , CM000685.1:g.153362982_153363043del	GRCh37
NC_000023.9:g.153016176_153016237del	NCBI36
NG_007107.2:g.44537_44598del
NG_007107.3:g.44519_44580del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.22+19_22+80del
ENST00000303391.11:c.-99+19_-99+80del MANE Plus Clinical	ENSP00000301948.6:n.-99+19_-99+80del
ENST00000453960.7:c.62+19_62+80del MANE Select	ENSP00000395535.2:n.62+19_62+80del
ENST00000676382.1:n.22+19_22+80del
ENST00000303391.10:c.-99+19_-99+80del	ENSP00000301948.6:n.-99+19_-99+80del
ENST00000369957.5:c.-99+19_-99+80del	ENSP00000358973.4:n.-99+19_-99+80del
ENST00000407218.5:c.62+19_62+80del	ENSP00000384865.2:n.62+19_62+80del
ENST00000453960.6:c.62+19_62+80del	ENSP00000395535.2:n.62+19_62+80del
ENST00000619732.4:c.-99+19_-99+80del	ENSP00000480973.1:n.-99+19_-99+80del
ENST00000627864.1:n.77+19_77+80del
ENST00000628176.2:c.-99+19_-99+80del	ENSP00000486978.1:n.-99+19_-99+80del
ENST00000631210.1:n.305+7196_305+7257del
NM_001110792.1:c.62+19_62+80del	NP_001104262.1:n.62+19_62+80del
NM_001316337.1:c.-546+19_-546+80del	NP_001303266.1:n.-546+19_-546+80del
NM_004992.3:c.-99+19_-99+80del	NP_004983.1:n.-99+19_-99+80del
XM_005274682.3:c.-490+19_-490+80del	XP_005274739.1:n.-490+19_-490+80del
NM_001110792.2:c.62+19_62+80del MANE Select	NP_001104262.1:n.62+19_62+80del
NM_001316337.2:c.-546+19_-546+80del	NP_001303266.1:n.-546+19_-546+80del
NM_001369391.2:c.-841+19_-841+80del	NP_001356320.1:n.-841+19_-841+80del
NM_001369392.2:c.-490+19_-490+80del	NP_001356321.1:n.-490+19_-490+80del
NM_001369393.2:c.-366+19_-366+80del	NP_001356322.1:n.-366+19_-366+80del
NM_001386137.1:c.-771+19_-771+80del	NP_001373066.1:n.-771+19_-771+80del
NM_001386138.1:c.-659+19_-659+80del	NP_001373067.1:n.-659+19_-659+80del
NM_001386139.1:c.-535+19_-535+80del	NP_001373068.1:n.-535+19_-535+80del
NM_004992.4:c.-99+19_-99+80del MANE Plus Clinical	NP_004983.1:n.-99+19_-99+80del