Canonical Allele Identifier: CA915952024

Gene: MECP2

Linked Data

• ClinVar Variation Id: 650295
• ClinVar RCV Id: RCV000805421

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030690_154038335del , CM000685.2:g.154030690_154038335del	GRCh38
NC_000023.10:g.153296141_153303786del , CM000685.1:g.153296141_153303786del	GRCh37
NC_000023.9:g.152949335_152956980del	NCBI36
NG_007107.2:g.103793_111438del
NG_007107.3:g.103769_111414del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.27-5778_1138del
ENST00000453960.7:c.63-5778_1174del
ENST00000303391.10:c.27-5778_1138del
ENST00000407218.5:c.63-5778_*510del
ENST00000453960.6:c.63-5778_1174del
ENST00000619732.4:c.27-5778_1138del
ENST00000628176.2:c.27-5778_*510del
NM_001110792.1:c.63-5778_1174del
NM_001316337.1:c.-253-5778_859del
NM_004992.3:c.27-5778_1138del
XM_005274681.3:c.27-5778_1138del
XM_005274682.3:c.-254+1457_859del
XM_005274683.3:c.-253-5778_859del
XM_011531166.1:c.-253-5778_859del
XM_006724819.3:c.-535+1457_469del
XM_011531166.2:c.-253-5778_859del
XM_024452383.1:c.-253-5778_859del
XM_024452384.1:c.-254+1457_859del
NM_001110792.2:c.63-5778_1174del
NM_001316337.2:c.-253-5778_859del
NM_001369391.2:c.-253-5778_859del
NM_001369392.2:c.-254+1457_859del
NM_001369393.2:c.-254+1457_859del
NM_001369394.1:c.-253-5778_859del
NM_001369394.2:c.-253-5778_859del
NM_001386137.1:c.-535+1457_469del
NM_001386138.1:c.-534-5778_469del
NM_001386139.1:c.-534-5778_469del
NM_004992.4:c.27-5778_1138del