Canonical Allele Identifier: CA270504
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143662
dbSNP Id: rs63260260

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031137del , CM000685.2:g.154031137del GRCh38
NC_000023.10:g.153296588del , CM000685.1:g.153296588del GRCh37
NC_000023.9:g.152949782del NCBI36
NG_007107.2:g.110995del
NG_007107.3:g.110971del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.695del MANE Plus Clinical ENSP00000301948.6:p.Gly232AlafsTer16
ENST00000453960.7:c.731del MANE Select ENSP00000395535.2:p.Gly244AlafsTer16
ENST00000637917.1:c.66-197del
ENST00000303391.10:c.695del ENSP00000301948.6:p.Gly232AlafsTer16
ENST00000407218.5:c.*67del ENSP00000384865.2:n.*67del
ENST00000453960.6:c.731del ENSP00000395535.2:p.Gly244AlafsTer16
ENST00000619732.4:c.695del ENSP00000480973.1:p.Gly232AlafsTer16
ENST00000622433.4:c.683del ENSP00000484470.1:p.Gly228AlafsTer16
ENST00000628176.2:c.*67del ENSP00000486978.1:n.*67del
NM_001110792.1:c.731del NP_001104262.1:p.Gly244AlafsTer16
NM_001316337.1:c.416del NP_001303266.1:p.Gly139AlafsTer16
NM_004992.3:c.695del NP_004983.1:p.Gly232AlafsTer16
XM_005274681.3:c.695del XP_005274738.1:p.Gly232AlafsTer16
XM_005274682.3:c.416del XP_005274739.1:p.Gly139AlafsTer16
XM_005274683.3:c.416del XP_005274740.1:p.Gly139AlafsTer16
XM_006724819.2:c.26del XP_006724882.1:p.Gly9AlafsTer16
XM_011531166.1:c.416del XP_011529468.1:p.Gly139AlafsTer16
XM_006724819.3:c.26del XP_006724882.1:p.Gly9AlafsTer16
XM_011531166.2:c.416del XP_011529468.1:p.Gly139AlafsTer16
XM_024452383.1:c.416del XP_024308151.1:p.Gly139AlafsTer16
XM_024452384.1:c.416del XP_024308152.1:p.Gly139AlafsTer16
NM_001110792.2:c.731del MANE Select NP_001104262.1:p.Gly244AlafsTer16
NM_001316337.2:c.416del NP_001303266.1:p.Gly139AlafsTer16
NM_001369391.2:c.416del NP_001356320.1:p.Gly139AlafsTer16
NM_001369392.2:c.416del NP_001356321.1:p.Gly139AlafsTer16
NM_001369393.2:c.416del NP_001356322.1:p.Gly139AlafsTer16
NM_001369394.1:c.416del NP_001356323.1:p.Gly139AlafsTer16
NM_001369394.2:c.416del NP_001356323.1:p.Gly139AlafsTer16
NM_001386137.1:c.26del NP_001373066.1:p.Gly9AlafsTer16
NM_001386138.1:c.26del NP_001373067.1:p.Gly9AlafsTer16
NM_001386139.1:c.26del NP_001373068.1:p.Gly9AlafsTer16
NM_004992.4:c.695del MANE Plus Clinical NP_004983.1:p.Gly232AlafsTer16