Canonical Allele Identifier: CA2695237620
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031449_154031450insGAACA , CM000685.2:g.154031449_154031450insGAACA GRCh38
NC_000023.10:g.153296900_153296901insGAACA , CM000685.1:g.153296900_153296901insGAACA GRCh37
NC_000023.9:g.152950094_152950095insGAACA NCBI36
NG_007107.2:g.110678_110679insTGTTC
NG_007107.3:g.110654_110655insTGTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.378_379insTGTTC MANE Plus Clinical ENSP00000301948.6:p.Pro127CysfsTer14
ENST00000453960.7:c.414_415insTGTTC MANE Select ENSP00000395535.2:p.Pro139CysfsTer14
ENST00000637917.1:c.11_12insTGTTC
ENST00000303391.10:c.378_379insTGTTC ENSP00000301948.6:p.Pro127CysfsTer14
ENST00000369957.5:c.*432_*433insTGTTC ENSP00000358973.4:n.*432_*433insTGTTC
ENST00000407218.5:c.414_415insTGTTC ENSP00000384865.2:p.Pro139CysfsTer14
ENST00000453960.6:c.414_415insTGTTC ENSP00000395535.2:p.Pro139CysfsTer14
ENST00000486506.5:n.2726_2727insTGTTC
ENST00000611468.1:c.366_367insTGTTC ENSP00000479736.1:p.Pro123CysfsTer14
ENST00000619732.4:c.378_379insTGTTC ENSP00000480973.1:p.Pro127CysfsTer14
ENST00000622433.4:c.366_367insTGTTC ENSP00000484470.1:p.Pro123CysfsTer14
ENST00000628176.2:c.378_379insTGTTC ENSP00000486978.1:p.Pro127CysfsTer14
NM_001110792.1:c.414_415insTGTTC NP_001104262.1:p.Pro139CysfsTer14
NM_001316337.1:c.99_100insTGTTC NP_001303266.1:p.Pro34CysfsTer14
NM_004992.3:c.378_379insTGTTC NP_004983.1:p.Pro127CysfsTer14
XM_005274681.3:c.378_379insTGTTC XP_005274738.1:p.Pro127CysfsTer14
XM_005274682.3:c.99_100insTGTTC XP_005274739.1:p.Pro34CysfsTer14
XM_005274683.3:c.99_100insTGTTC XP_005274740.1:p.Pro34CysfsTer14
XM_006724819.2:c.-183_-182insTGTTC XP_006724882.1:n.-183_-182insTGTTC
XM_011531166.1:c.99_100insTGTTC XP_011529468.1:p.Pro34CysfsTer14
XM_006724819.3:c.-183_-182insTGTTC XP_006724882.1:n.-183_-182insTGTTC
XM_011531166.2:c.99_100insTGTTC XP_011529468.1:p.Pro34CysfsTer14
XM_024452383.1:c.99_100insTGTTC XP_024308151.1:p.Pro34CysfsTer14
XM_024452384.1:c.99_100insTGTTC XP_024308152.1:p.Pro34CysfsTer14
NM_001110792.2:c.414_415insTGTTC MANE Select NP_001104262.1:p.Pro139CysfsTer14
NM_001316337.2:c.99_100insTGTTC NP_001303266.1:p.Pro34CysfsTer14
NM_001369391.2:c.99_100insTGTTC NP_001356320.1:p.Pro34CysfsTer14
NM_001369392.2:c.99_100insTGTTC NP_001356321.1:p.Pro34CysfsTer14
NM_001369393.2:c.99_100insTGTTC NP_001356322.1:p.Pro34CysfsTer14
NM_001369394.1:c.99_100insTGTTC NP_001356323.1:p.Pro34CysfsTer14
NM_001369394.2:c.99_100insTGTTC NP_001356323.1:p.Pro34CysfsTer14
NM_001386137.1:c.-183_-182insTGTTC NP_001373066.1:n.-183_-182insTGTTC
NM_001386138.1:c.-183_-182insTGTTC NP_001373067.1:n.-183_-182insTGTTC
NM_001386139.1:c.-183_-182insTGTTC NP_001373068.1:n.-183_-182insTGTTC
NM_004992.4:c.378_379insTGTTC MANE Plus Clinical NP_004983.1:p.Pro127CysfsTer14