Canonical Allele Identifier: CA2570195784
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154097566_154097568del , CM000685.2:g.154097566_154097568del GRCh38
NC_000023.10:g.153363023_153363025del , CM000685.1:g.153363023_153363025del GRCh37
NC_000023.9:g.153016217_153016219del NCBI36
NG_007107.2:g.44554_44556del
NG_007107.3:g.44536_44538del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700484.1:n.22+36_22+38del
ENST00000303391.11:c.-99+36_-99+38del MANE Plus Clinical ENSP00000301948.6:n.-99+36_-99+38del
ENST00000453960.7:c.62+36_62+38del MANE Select ENSP00000395535.2:n.62+36_62+38del
ENST00000676382.1:n.22+36_22+38del
ENST00000303391.10:c.-99+36_-99+38del ENSP00000301948.6:n.-99+36_-99+38del
ENST00000369957.5:c.-99+36_-99+38del ENSP00000358973.4:n.-99+36_-99+38del
ENST00000407218.5:c.62+36_62+38del ENSP00000384865.2:n.62+36_62+38del
ENST00000453960.6:c.62+36_62+38del ENSP00000395535.2:n.62+36_62+38del
ENST00000619732.4:c.-99+36_-99+38del ENSP00000480973.1:n.-99+36_-99+38del
ENST00000627864.1:n.77+36_77+38del
ENST00000628176.2:c.-99+36_-99+38del ENSP00000486978.1:n.-99+36_-99+38del
ENST00000631210.1:n.305+7213_305+7215del
NM_001110792.1:c.62+36_62+38del NP_001104262.1:n.62+36_62+38del
NM_001316337.1:c.-546+36_-546+38del NP_001303266.1:n.-546+36_-546+38del
NM_004992.3:c.-99+36_-99+38del NP_004983.1:n.-99+36_-99+38del
XM_005274682.3:c.-490+36_-490+38del XP_005274739.1:n.-490+36_-490+38del
NM_001110792.2:c.62+36_62+38del MANE Select NP_001104262.1:n.62+36_62+38del
NM_001316337.2:c.-546+36_-546+38del NP_001303266.1:n.-546+36_-546+38del
NM_001369391.2:c.-841+36_-841+38del NP_001356320.1:n.-841+36_-841+38del
NM_001369392.2:c.-490+36_-490+38del NP_001356321.1:n.-490+36_-490+38del
NM_001369393.2:c.-366+36_-366+38del NP_001356322.1:n.-366+36_-366+38del
NM_001386137.1:c.-771+36_-771+38del NP_001373066.1:n.-771+36_-771+38del
NM_001386138.1:c.-659+36_-659+38del NP_001373067.1:n.-659+36_-659+38del
NM_001386139.1:c.-535+36_-535+38del NP_001373068.1:n.-535+36_-535+38del
NM_004992.4:c.-99+36_-99+38del MANE Plus Clinical NP_004983.1:n.-99+36_-99+38del