Canonical Allele Identifier: CA198846
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143406
dbSNP Id: rs61752992

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030627_154030670del , CM000685.2:g.154030627_154030670del GRCh38
NC_000023.10:g.153296078_153296121del , CM000685.1:g.153296078_153296121del GRCh37
NC_000023.9:g.152949272_152949315del NCBI36
NG_007107.2:g.111464_111507del
NG_007107.3:g.111440_111483del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.1164_1207del MANE Plus Clinical ENSP00000301948.6:p.Pro389Ter
ENST00000453960.7:c.1200_1243del MANE Select ENSP00000395535.2:p.Pro401Ter
ENST00000303391.10:c.1164_1207del ENSP00000301948.6:p.Pro389Ter
ENST00000407218.5:c.*536_*579del ENSP00000384865.2:n.*536_*579del
ENST00000453960.6:c.1200_1243del ENSP00000395535.2:p.Pro401Ter
ENST00000619732.4:c.1164_1207del ENSP00000480973.1:p.Pro389Ter
ENST00000628176.2:c.*536_*579del ENSP00000486978.1:n.*536_*579del
NM_001110792.1:c.1200_1243del NP_001104262.1:p.Pro401Ter
NM_001316337.1:c.885_928del NP_001303266.1:p.Pro296Ter
NM_004992.3:c.1164_1207del NP_004983.1:p.Pro389Ter
XM_005274681.3:c.1164_1207del XP_005274738.1:p.Pro389Ter
XM_005274682.3:c.885_928del XP_005274739.1:p.Pro296Ter
XM_005274683.3:c.885_928del XP_005274740.1:p.Pro296Ter
XM_006724819.2:c.495_538del XP_006724882.1:p.Pro166Ter
XM_011531166.1:c.885_928del XP_011529468.1:p.Pro296Ter
XM_006724819.3:c.495_538del XP_006724882.1:p.Pro166Ter
XM_011531166.2:c.885_928del XP_011529468.1:p.Pro296Ter
XM_024452383.1:c.885_928del XP_024308151.1:p.Pro296Ter
XM_024452384.1:c.885_928del XP_024308152.1:p.Pro296Ter
NM_001110792.2:c.1200_1243del MANE Select NP_001104262.1:p.Pro401Ter
NM_001316337.2:c.885_928del NP_001303266.1:p.Pro296Ter
NM_001369391.2:c.885_928del NP_001356320.1:p.Pro296Ter
NM_001369392.2:c.885_928del NP_001356321.1:p.Pro296Ter
NM_001369393.2:c.885_928del NP_001356322.1:p.Pro296Ter
NM_001369394.1:c.885_928del NP_001356323.1:p.Pro296Ter
NM_001369394.2:c.885_928del NP_001356323.1:p.Pro296Ter
NM_001386137.1:c.495_538del NP_001373066.1:p.Pro166Ter
NM_001386138.1:c.495_538del NP_001373067.1:p.Pro166Ter
NM_001386139.1:c.495_538del NP_001373068.1:p.Pro166Ter
NM_004992.4:c.1164_1207del MANE Plus Clinical NP_004983.1:p.Pro389Ter