Canonical Allele Identifier: CA2740090186
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3061849
ClinVar RCV Id: RCV003984896

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032215_154032219dup , CM000685.2:g.154032215_154032219dup GRCh38
NC_000023.10:g.153297666_153297670dup , CM000685.1:g.153297666_153297670dup GRCh37
NC_000023.9:g.152950860_152950864dup NCBI36
NG_007107.2:g.109910_109914dup
NG_007107.3:g.109886_109890dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.366_370dup MANE Plus Clinical ENSP00000301948.6:p.Leu124CysfsTer3
ENST00000453960.7:c.402_406dup MANE Select ENSP00000395535.2:p.Leu136CysfsTer3
ENST00000303391.10:c.366_370dup ENSP00000301948.6:p.Leu124CysfsTer3
ENST00000369957.5:c.*420_*424dup ENSP00000358973.4:n.*420_*424dup
ENST00000407218.5:c.402_406dup ENSP00000384865.2:p.Leu136CysfsTer3
ENST00000453960.6:c.402_406dup ENSP00000395535.2:p.Leu136CysfsTer3
ENST00000486506.5:n.2714_2718dup
ENST00000611468.1:c.354_358dup ENSP00000479736.1:p.Leu120CysfsTer3
ENST00000619732.4:c.366_370dup ENSP00000480973.1:p.Leu124CysfsTer3
ENST00000622433.4:c.354_358dup ENSP00000484470.1:p.Leu120CysfsTer3
ENST00000628176.2:c.366_370dup ENSP00000486978.1:p.Leu124CysfsTer3
NM_001110792.1:c.402_406dup NP_001104262.1:p.Leu136CysfsTer3
NM_001316337.1:c.87_91dup NP_001303266.1:p.Leu31CysfsTer3
NM_004992.3:c.366_370dup NP_004983.1:p.Leu124CysfsTer3
XM_005274681.3:c.366_370dup XP_005274738.1:p.Leu124CysfsTer3
XM_005274682.3:c.87_91dup XP_005274739.1:p.Leu31CysfsTer3
XM_005274683.3:c.87_91dup XP_005274740.1:p.Leu31CysfsTer3
XM_006724819.2:c.-195_-191dup XP_006724882.1:n.-195_-191dup
XM_011531166.1:c.87_91dup XP_011529468.1:p.Leu31CysfsTer3
XM_006724819.3:c.-195_-191dup XP_006724882.1:n.-195_-191dup
XM_011531166.2:c.87_91dup XP_011529468.1:p.Leu31CysfsTer3
XM_024452383.1:c.87_91dup XP_024308151.1:p.Leu31CysfsTer3
XM_024452384.1:c.87_91dup XP_024308152.1:p.Leu31CysfsTer3
NM_001110792.2:c.402_406dup MANE Select NP_001104262.1:p.Leu136CysfsTer3
NM_001316337.2:c.87_91dup NP_001303266.1:p.Leu31CysfsTer3
NM_001369391.2:c.87_91dup NP_001356320.1:p.Leu31CysfsTer3
NM_001369392.2:c.87_91dup NP_001356321.1:p.Leu31CysfsTer3
NM_001369393.2:c.87_91dup NP_001356322.1:p.Leu31CysfsTer3
NM_001369394.1:c.87_91dup NP_001356323.1:p.Leu31CysfsTer3
NM_001369394.2:c.87_91dup NP_001356323.1:p.Leu31CysfsTer3
NM_001386137.1:c.-195_-191dup NP_001373066.1:n.-195_-191dup
NM_001386138.1:c.-195_-191dup NP_001373067.1:n.-195_-191dup
NM_001386139.1:c.-195_-191dup NP_001373068.1:n.-195_-191dup
NM_004992.4:c.366_370dup MANE Plus Clinical NP_004983.1:p.Leu124CysfsTer3