Canonical Allele Identifier: CA1139667874

Gene: MECP2

Linked Data

• ClinVar Variation Id: 940739
• ClinVar RCV Id: RCV001210386

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030587_154034485del , CM000685.2:g.154030587_154034485del	GRCh38
NC_000023.10:g.153296038_153299936del , CM000685.1:g.153296038_153299936del	GRCh37
NC_000023.9:g.152949232_152953130del	NCBI36
NG_007107.2:g.107643_111541del
NG_007107.3:g.107619_111517del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.27-1928_1241del
ENST00000453960.7:c.63-1928_1277del
ENST00000303391.10:c.27-1928_1241del
ENST00000453960.6:c.63-1928_1277del
ENST00000619732.4:c.27-1928_1241del
ENST00000628176.2:c.27-1928_*613del
NM_001110792.1:c.63-1928_1277del
NM_001316337.1:c.-253-1928_962del
NM_004992.3:c.27-1928_1241del
XM_005274681.3:c.27-1928_1241del
XM_005274682.3:c.-253-1928_962del
XM_005274683.3:c.-253-1928_962del
XM_011531166.1:c.-253-1928_962del
XM_006724819.3:c.-534-1928_572del
XM_011531166.2:c.-253-1928_962del
XM_024452383.1:c.-253-1928_962del
XM_024452384.1:c.-253-1928_962del
NM_001110792.2:c.63-1928_1277del
NM_001316337.2:c.-253-1928_962del
NM_001369391.2:c.-253-1928_962del
NM_001369392.2:c.-253-1928_962del
NM_001369393.2:c.-253-1928_962del
NM_001369394.1:c.-253-1928_962del
NM_001369394.2:c.-253-1928_962del
NM_001386137.1:c.-534-1928_572del
NM_001386138.1:c.-534-1928_572del
NM_001386139.1:c.-534-1928_572del
NM_004992.4:c.27-1928_1241del