Canonical Allele Identifier: CA277171
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 211461
ClinVar RCV Id: RCV000193568
dbSNP Id: rs797045694

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032527_154032537del , CM000685.2:g.154032527_154032537del GRCh38
NC_000023.10:g.153297978_153297988del , CM000685.1:g.153297978_153297988del GRCh37
NC_000023.9:g.152951172_152951182del NCBI36
NG_007107.2:g.109591_109601del
NG_007107.3:g.109567_109577del

Transcript Alleles

HGVS Amino-acid change
ENST00000700484.1:n.155_165del
ENST00000303391.11:c.47_57del MANE Plus Clinical ENSP00000301948.6:p.Gln16ArgfsTer10
ENST00000453960.7:c.83_93del MANE Select ENSP00000395535.2:p.Gln28ArgfsTer10
ENST00000611468.2:n.295_305del
ENST00000630151.2:c.47_57del ENSP00000486089.1:p.Gln16ArgfsTer10
ENST00000637533.1:n.78_88del
ENST00000675526.1:c.*440_*450del ENSP00000501710.1:n.*440_*450del
ENST00000676382.1:n.240_250del
ENST00000303391.10:c.47_57del ENSP00000301948.6:p.Gln16ArgfsTer10
ENST00000369957.5:c.*101_*111del ENSP00000358973.4:n.*101_*111del
ENST00000407218.5:c.83_93del ENSP00000384865.2:p.Gln28ArgfsTer10
ENST00000415944.3:c.47_57del ENSP00000416267.1:p.Gln16ArgfsTer10
ENST00000453960.6:c.83_93del ENSP00000395535.2:p.Gln28ArgfsTer10
ENST00000460227.4:n.1196_1206del
ENST00000463644.5:n.986_996del
ENST00000481807.3:n.333_343del
ENST00000486506.5:n.2395_2405del
ENST00000488293.4:n.1096_1106del
ENST00000496908.5:n.178_188del
ENST00000611468.1:c.35_45del ENSP00000479736.1:p.Gln12ArgfsTer10
ENST00000619732.4:c.47_57del ENSP00000480973.1:p.Gln16ArgfsTer10
ENST00000622433.4:c.35_45del ENSP00000484470.1:p.Gln12ArgfsTer10
ENST00000625300.1:n.272_282del
ENST00000626422.2:n.757_767del
ENST00000628176.2:c.47_57del ENSP00000486978.1:p.Gln16ArgfsTer10
ENST00000630151.1:c.47_57del ENSP00000486089.1:p.Gln16ArgfsTer10
ENST00000631210.1:n.326_336del
NM_001110792.1:c.83_93del NP_001104262.1:p.Gln28ArgfsTer10
NM_001316337.1:c.-233_-223del NP_001303266.1:n.-233_-223del
NM_004992.3:c.47_57del NP_004983.1:p.Gln16ArgfsTer10
XM_005274681.3:c.47_57del XP_005274738.1:p.Gln16ArgfsTer10
XM_005274682.3:c.-233_-223del XP_005274739.1:n.-233_-223del
XM_005274683.3:c.-233_-223del XP_005274740.1:n.-233_-223del
XM_011531166.1:c.-233_-223del XP_011529468.1:n.-233_-223del
XM_006724819.3:c.-514_-504del XP_006724882.1:n.-514_-504del
XM_011531166.2:c.-233_-223del XP_011529468.1:n.-233_-223del
XM_024452383.1:c.-233_-223del XP_024308151.1:n.-233_-223del
XM_024452384.1:c.-233_-223del XP_024308152.1:n.-233_-223del
NM_001110792.2:c.83_93del MANE Select NP_001104262.1:p.Gln28ArgfsTer10
NM_001316337.2:c.-233_-223del NP_001303266.1:n.-233_-223del
NM_001369391.2:c.-233_-223del NP_001356320.1:n.-233_-223del
NM_001369392.2:c.-233_-223del NP_001356321.1:n.-233_-223del
NM_001369393.2:c.-233_-223del NP_001356322.1:n.-233_-223del
NM_001369394.1:c.-233_-223del NP_001356323.1:n.-233_-223del
NM_001369394.2:c.-233_-223del NP_001356323.1:n.-233_-223del
NM_001386137.1:c.-514_-504del NP_001373066.1:n.-514_-504del
NM_001386138.1:c.-514_-504del NP_001373067.1:n.-514_-504del
NM_001386139.1:c.-514_-504del NP_001373068.1:n.-514_-504del
NM_004992.4:c.47_57del MANE Plus Clinical NP_004983.1:p.Gln16ArgfsTer10