Canonical Allele Identifier: CA2466571550
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032286_154032289delinsGGGT , CM000685.2:g.154032286_154032289delinsGGGT GRCh38
NC_000023.10:g.153297737_153297740delinsGGGT , CM000685.1:g.153297737_153297740delinsGGGT GRCh37
NC_000023.9:g.152950931_152950934delinsGGGT NCBI36
NG_007107.2:g.109839_109842delinsACCC
NG_007107.3:g.109815_109818delinsACCC

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.295_298delinsACCC MANE Plus Clinical ENSP00000301948.6:p.Thr99=
ENST00000453960.7:c.331_334delinsACCC MANE Select ENSP00000395535.2:p.Thr111=
ENST00000303391.10:c.295_298delinsACCC ENSP00000301948.6:p.Thr99=
ENST00000369957.5:c.*349_*352delinsACCC ENSP00000358973.4:n.*349_*352delinsACCC
ENST00000407218.5:c.331_334delinsACCC ENSP00000384865.2:p.Thr111=
ENST00000453960.6:c.331_334delinsACCC ENSP00000395535.2:p.Thr111=
ENST00000486506.5:n.2643_2646delinsACCC
ENST00000611468.1:c.283_286delinsACCC ENSP00000479736.1:p.Thr95=
ENST00000619732.4:c.295_298delinsACCC ENSP00000480973.1:p.Thr99=
ENST00000622433.4:c.283_286delinsACCC ENSP00000484470.1:p.Thr95=
ENST00000628176.2:c.295_298delinsACCC ENSP00000486978.1:p.Thr99=
NM_001110792.1:c.331_334delinsACCC NP_001104262.1:p.Thr111=
NM_001316337.1:c.16_19delinsACCC NP_001303266.1:p.Thr6=
NM_004992.3:c.295_298delinsACCC NP_004983.1:p.Thr99=
XM_005274681.3:c.295_298delinsACCC XP_005274738.1:p.Thr99=
XM_005274682.3:c.16_19delinsACCC XP_005274739.1:p.Thr6=
XM_005274683.3:c.16_19delinsACCC XP_005274740.1:p.Thr6=
XM_011531166.1:c.16_19delinsACCC XP_011529468.1:p.Thr6=
XM_006724819.3:c.-266_-263delinsACCC XP_006724882.1:n.-266_-263delinsACCC
XM_011531166.2:c.16_19delinsACCC XP_011529468.1:p.Thr6=
XM_024452383.1:c.16_19delinsACCC XP_024308151.1:p.Thr6=
XM_024452384.1:c.16_19delinsACCC XP_024308152.1:p.Thr6=
NM_001110792.2:c.331_334delinsACCC MANE Select NP_001104262.1:p.Thr111=
NM_001316337.2:c.16_19delinsACCC NP_001303266.1:p.Thr6=
NM_001369391.2:c.16_19delinsACCC NP_001356320.1:p.Thr6=
NM_001369392.2:c.16_19delinsACCC NP_001356321.1:p.Thr6=
NM_001369393.2:c.16_19delinsACCC NP_001356322.1:p.Thr6=
NM_001369394.1:c.16_19delinsACCC NP_001356323.1:p.Thr6=
NM_001369394.2:c.16_19delinsACCC NP_001356323.1:p.Thr6=
NM_001386137.1:c.-266_-263delinsACCC NP_001373066.1:n.-266_-263delinsACCC
NM_001386138.1:c.-266_-263delinsACCC NP_001373067.1:n.-266_-263delinsACCC
NM_001386139.1:c.-266_-263delinsACCC NP_001373068.1:n.-266_-263delinsACCC
NM_004992.4:c.295_298delinsACCC MANE Plus Clinical NP_004983.1:p.Thr99=