Canonical Allele Identifier: CA2503079351

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097572_154097580del , CM000685.2:g.154097572_154097580del	GRCh38
NC_000023.10:g.153363029_153363037del , CM000685.1:g.153363029_153363037del	GRCh37
NC_000023.9:g.153016223_153016231del	NCBI36
NG_007107.2:g.44542_44550del
NG_007107.3:g.44524_44532del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.22+24_22+32del
ENST00000303391.11:c.-99+24_-99+32del MANE Plus Clinical	ENSP00000301948.6:n.-99+24_-99+32del
ENST00000453960.7:c.62+24_62+32del MANE Select	ENSP00000395535.2:n.62+24_62+32del
ENST00000676382.1:n.22+24_22+32del
ENST00000303391.10:c.-99+24_-99+32del	ENSP00000301948.6:n.-99+24_-99+32del
ENST00000369957.5:c.-99+24_-99+32del	ENSP00000358973.4:n.-99+24_-99+32del
ENST00000407218.5:c.62+24_62+32del	ENSP00000384865.2:n.62+24_62+32del
ENST00000453960.6:c.62+24_62+32del	ENSP00000395535.2:n.62+24_62+32del
ENST00000619732.4:c.-99+24_-99+32del	ENSP00000480973.1:n.-99+24_-99+32del
ENST00000627864.1:n.77+24_77+32del
ENST00000628176.2:c.-99+24_-99+32del	ENSP00000486978.1:n.-99+24_-99+32del
ENST00000631210.1:n.305+7201_305+7209del
NM_001110792.1:c.62+24_62+32del	NP_001104262.1:n.62+24_62+32del
NM_001316337.1:c.-546+24_-546+32del	NP_001303266.1:n.-546+24_-546+32del
NM_004992.3:c.-99+24_-99+32del	NP_004983.1:n.-99+24_-99+32del
XM_005274682.3:c.-490+24_-490+32del	XP_005274739.1:n.-490+24_-490+32del
NM_001110792.2:c.62+24_62+32del MANE Select	NP_001104262.1:n.62+24_62+32del
NM_001316337.2:c.-546+24_-546+32del	NP_001303266.1:n.-546+24_-546+32del
NM_001369391.2:c.-841+24_-841+32del	NP_001356320.1:n.-841+24_-841+32del
NM_001369392.2:c.-490+24_-490+32del	NP_001356321.1:n.-490+24_-490+32del
NM_001369393.2:c.-366+24_-366+32del	NP_001356322.1:n.-366+24_-366+32del
NM_001386137.1:c.-771+24_-771+32del	NP_001373066.1:n.-771+24_-771+32del
NM_001386138.1:c.-659+24_-659+32del	NP_001373067.1:n.-659+24_-659+32del
NM_001386139.1:c.-535+24_-535+32del	NP_001373068.1:n.-535+24_-535+32del
NM_004992.4:c.-99+24_-99+32del MANE Plus Clinical	NP_004983.1:n.-99+24_-99+32del