Canonical Allele Identifier: CA915952026
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 804290
ClinVar RCV Id: RCV000991244

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030777_154032630del , CM000685.2:g.154030777_154032630del GRCh38
NC_000023.10:g.153296228_153298081del , CM000685.1:g.153296228_153298081del GRCh37
NC_000023.9:g.152949422_152951275del NCBI36
NG_007107.2:g.109498_111351del
NG_007107.3:g.109474_111327del

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.27-73_1051del
ENST00000453960.7:c.63-73_1087del
ENST00000303391.10:c.27-73_1051del
ENST00000407218.5:c.63-73_*423del
ENST00000453960.6:c.63-73_1087del
ENST00000619732.4:c.27-73_1051del
ENST00000628176.2:c.27-73_*423del
NM_001110792.1:c.63-73_1087del
NM_001316337.1:c.-253-73_772del
NM_004992.3:c.27-73_1051del
XM_005274681.3:c.27-73_1051del
XM_005274682.3:c.-253-73_772del
XM_005274683.3:c.-253-73_772del
XM_011531166.1:c.-253-73_772del
XM_006724819.3:c.-534-73_382del
XM_011531166.2:c.-253-73_772del
XM_024452383.1:c.-253-73_772del
XM_024452384.1:c.-253-73_772del
NM_001110792.2:c.63-73_1087del
NM_001316337.2:c.-253-73_772del
NM_001369391.2:c.-253-73_772del
NM_001369392.2:c.-253-73_772del
NM_001369393.2:c.-253-73_772del
NM_001369394.1:c.-253-73_772del
NM_001369394.2:c.-253-73_772del
NM_001386137.1:c.-534-73_382del
NM_001386138.1:c.-534-73_382del
NM_001386139.1:c.-534-73_382del
NM_004992.4:c.27-73_1051del