Canonical Allele Identifier: CA2466571511
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032208_154032209delinsTG , CM000685.2:g.154032208_154032209delinsTG GRCh38
NC_000023.10:g.153297659_153297660delinsTG , CM000685.1:g.153297659_153297660delinsTG GRCh37
NC_000023.9:g.152950853_152950854delinsTG NCBI36
NG_007107.2:g.109919_109920delinsCA
NG_007107.3:g.109895_109896delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.375_376delinsCA MANE Plus Clinical ENSP00000301948.6:p.Ile125=
ENST00000453960.7:c.411_412delinsCA MANE Select ENSP00000395535.2:p.Ile137=
ENST00000637917.1:c.8_9delinsCA
ENST00000303391.10:c.375_376delinsCA ENSP00000301948.6:p.Ile125=
ENST00000369957.5:c.*429_*430delinsCA ENSP00000358973.4:n.*429_*430delinsCA
ENST00000407218.5:c.411_412delinsCA ENSP00000384865.2:p.Ile137=
ENST00000453960.6:c.411_412delinsCA ENSP00000395535.2:p.Ile137=
ENST00000486506.5:n.2723_2724delinsCA
ENST00000611468.1:c.363_364delinsCA ENSP00000479736.1:p.Ile121=
ENST00000619732.4:c.375_376delinsCA ENSP00000480973.1:p.Ile125=
ENST00000622433.4:c.363_364delinsCA ENSP00000484470.1:p.Ile121=
ENST00000628176.2:c.375_376delinsCA ENSP00000486978.1:p.Ile125=
NM_001110792.1:c.411_412delinsCA NP_001104262.1:p.Ile137=
NM_001316337.1:c.96_97delinsCA NP_001303266.1:p.Ile32=
NM_004992.3:c.375_376delinsCA NP_004983.1:p.Ile125=
XM_005274681.3:c.375_376delinsCA XP_005274738.1:p.Ile125=
XM_005274682.3:c.96_97delinsCA XP_005274739.1:p.Ile32=
XM_005274683.3:c.96_97delinsCA XP_005274740.1:p.Ile32=
XM_006724819.2:c.-186_-185delinsCA XP_006724882.1:n.-186_-185delinsCA
XM_011531166.1:c.96_97delinsCA XP_011529468.1:p.Ile32=
XM_006724819.3:c.-186_-185delinsCA XP_006724882.1:n.-186_-185delinsCA
XM_011531166.2:c.96_97delinsCA XP_011529468.1:p.Ile32=
XM_024452383.1:c.96_97delinsCA XP_024308151.1:p.Ile32=
XM_024452384.1:c.96_97delinsCA XP_024308152.1:p.Ile32=
NM_001110792.2:c.411_412delinsCA MANE Select NP_001104262.1:p.Ile137=
NM_001316337.2:c.96_97delinsCA NP_001303266.1:p.Ile32=
NM_001369391.2:c.96_97delinsCA NP_001356320.1:p.Ile32=
NM_001369392.2:c.96_97delinsCA NP_001356321.1:p.Ile32=
NM_001369393.2:c.96_97delinsCA NP_001356322.1:p.Ile32=
NM_001369394.1:c.96_97delinsCA NP_001356323.1:p.Ile32=
NM_001369394.2:c.96_97delinsCA NP_001356323.1:p.Ile32=
NM_001386137.1:c.-186_-185delinsCA NP_001373066.1:n.-186_-185delinsCA
NM_001386138.1:c.-186_-185delinsCA NP_001373067.1:n.-186_-185delinsCA
NM_001386139.1:c.-186_-185delinsCA NP_001373068.1:n.-186_-185delinsCA
NM_004992.4:c.375_376delinsCA MANE Plus Clinical NP_004983.1:p.Ile125=