Canonical Allele Identifier: CA270196
Gene: MECP2 HGNC NCBI

Linked Data

dbSNP Id: rs267608426

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032478_154032481del , CM000685.2:g.154032478_154032481del GRCh38
NC_000023.10:g.153297929_153297932del , CM000685.1:g.153297929_153297932del GRCh37
NC_000023.9:g.152951123_152951126del NCBI36
NG_007107.2:g.109652_109655del
NG_007107.3:g.109628_109631del

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.108_111del MANE Plus Clinical ENSP00000301948.6:p.Glu37ArgfsTer?
ENST00000453960.7:c.144_147del MANE Select ENSP00000395535.2:p.Glu49ArgfsTer?
ENST00000611468.2:n.356_359del
ENST00000630151.2:c.108_111del ENSP00000486089.1:p.Glu37ArgfsTer?
ENST00000676382.1:n.301_304del
ENST00000303391.10:c.108_111del ENSP00000301948.6:p.Glu37ArgfsTer?
ENST00000369957.5:c.*162_*165del ENSP00000358973.4:n.*162_*165del
ENST00000407218.5:c.144_147del ENSP00000384865.2:p.Glu49ArgfsTer?
ENST00000415944.3:c.108_111del ENSP00000416267.1:p.Glu37ArgfsTer?
ENST00000453960.6:c.144_147del ENSP00000395535.2:p.Glu49ArgfsTer?
ENST00000460227.4:n.1257_1260del
ENST00000463644.5:n.1047_1050del
ENST00000481807.3:n.394_397del
ENST00000486506.5:n.2456_2459del
ENST00000488293.4:n.1157_1160del
ENST00000496908.5:n.239_242del
ENST00000611468.1:c.96_99del ENSP00000479736.1:p.Glu33ArgfsTer?
ENST00000619732.4:c.108_111del ENSP00000480973.1:p.Glu37ArgfsTer?
ENST00000622433.4:c.96_99del ENSP00000484470.1:p.Glu33ArgfsTer?
ENST00000625300.1:n.333_336del
ENST00000626422.2:n.818_821del
ENST00000628176.2:c.108_111del ENSP00000486978.1:p.Glu37ArgfsTer?
ENST00000630151.1:c.108_111del ENSP00000486089.1:p.Glu37ArgfsTer?
ENST00000631210.1:n.387_390del
NM_001110792.1:c.144_147del NP_001104262.1:p.Glu49ArgfsTer?
NM_001316337.1:c.-172_-169del NP_001303266.1:n.-172_-169del
NM_004992.3:c.108_111del NP_004983.1:p.Glu37ArgfsTer?
XM_005274681.3:c.108_111del XP_005274738.1:p.Glu37ArgfsTer?
XM_005274682.3:c.-172_-169del XP_005274739.1:n.-172_-169del
XM_005274683.3:c.-172_-169del XP_005274740.1:n.-172_-169del
XM_011531166.1:c.-172_-169del XP_011529468.1:n.-172_-169del
XM_006724819.3:c.-453_-450del XP_006724882.1:n.-453_-450del
XM_011531166.2:c.-172_-169del XP_011529468.1:n.-172_-169del
XM_024452383.1:c.-172_-169del XP_024308151.1:n.-172_-169del
XM_024452384.1:c.-172_-169del XP_024308152.1:n.-172_-169del
NM_001110792.2:c.144_147del MANE Select NP_001104262.1:p.Glu49ArgfsTer?
NM_001316337.2:c.-172_-169del NP_001303266.1:n.-172_-169del
NM_001369391.2:c.-172_-169del NP_001356320.1:n.-172_-169del
NM_001369392.2:c.-172_-169del NP_001356321.1:n.-172_-169del
NM_001369393.2:c.-172_-169del NP_001356322.1:n.-172_-169del
NM_001369394.1:c.-172_-169del NP_001356323.1:n.-172_-169del
NM_001369394.2:c.-172_-169del NP_001356323.1:n.-172_-169del
NM_001386137.1:c.-453_-450del NP_001373066.1:n.-453_-450del
NM_001386138.1:c.-453_-450del NP_001373067.1:n.-453_-450del
NM_001386139.1:c.-453_-450del NP_001373068.1:n.-453_-450del
NM_004992.4:c.108_111del MANE Plus Clinical NP_004983.1:p.Glu37ArgfsTer?