Canonical Allele Identifier: CA2695202254
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154097605_154097673del , CM000685.2:g.154097605_154097673del GRCh38
NC_000023.10:g.153363062_153363130del , CM000685.1:g.153363062_153363130del GRCh37
NC_000023.9:g.153016256_153016324del NCBI36
NG_007107.2:g.44450_44518del
NG_007107.3:g.44432_44500del

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.-167_-99del MANE Plus Clinical ENSP00000301948.6:n.-167_-99del
ENST00000453960.7:c.-7_62del
ENST00000303391.10:c.-167_-99del ENSP00000301948.6:n.-167_-99del
ENST00000407218.5:c.-7_62del
ENST00000453960.6:c.-7_62del
ENST00000619732.4:c.-167_-99del ENSP00000480973.1:n.-167_-99del
ENST00000627864.1:n.9_77del
ENST00000628176.2:c.-167_-99del ENSP00000486978.1:n.-167_-99del
ENST00000631210.1:n.305+7109_305+7177del
NM_001110792.1:c.-7_62del
NM_001316337.1:c.-614_-546del NP_001303266.1:n.-614_-546del
NM_004992.3:c.-167_-99del NP_004983.1:n.-167_-99del
XM_005274682.3:c.-558_-490del XP_005274739.1:n.-558_-490del
NM_001110792.2:c.-7_62del
NM_001316337.2:c.-614_-546del NP_001303266.1:n.-614_-546del
NM_001369391.2:c.-909_-841del NP_001356320.1:n.-909_-841del
NM_001369392.2:c.-558_-490del NP_001356321.1:n.-558_-490del
NM_001369393.2:c.-434_-366del NP_001356322.1:n.-434_-366del
NM_001386137.1:c.-839_-771del NP_001373066.1:n.-839_-771del
NM_001386138.1:c.-727_-659del NP_001373067.1:n.-727_-659del
NM_001386139.1:c.-603_-535del NP_001373068.1:n.-603_-535del
NM_004992.4:c.-167_-99del MANE Plus Clinical NP_004983.1:n.-167_-99del