Canonical Allele Identifier: CA2499226465

Gene: MECP2

Linked Data

• ClinVar Variation Id: 997823
• ClinVar RCV Id: RCV001293380

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030593_154038357del , CM000685.2:g.154030593_154038357del	GRCh38
NC_000023.10:g.153296044_153303808del , CM000685.1:g.153296044_153303808del	GRCh37
NC_000023.9:g.152949238_152957002del	NCBI36
NG_007107.2:g.103771_111535del
NG_007107.3:g.103747_111511del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.27-5800_1235del
ENST00000453960.7:c.63-5800_1271del
ENST00000303391.10:c.27-5800_1235del
ENST00000453960.6:c.63-5800_1271del
ENST00000619732.4:c.27-5800_1235del
ENST00000628176.2:c.27-5800_*607del
NM_001110792.1:c.63-5800_1271del
NM_001316337.1:c.-253-5800_956del
NM_004992.3:c.27-5800_1235del
XM_005274681.3:c.27-5800_1235del
XM_005274682.3:c.-254+1435_956del
XM_005274683.3:c.-253-5800_956del
XM_011531166.1:c.-253-5800_956del
XM_006724819.3:c.-535+1435_566del
XM_011531166.2:c.-253-5800_956del
XM_024452383.1:c.-253-5800_956del
XM_024452384.1:c.-254+1435_956del
NM_001110792.2:c.63-5800_1271del
NM_001316337.2:c.-253-5800_956del
NM_001369391.2:c.-253-5800_956del
NM_001369392.2:c.-254+1435_956del
NM_001369393.2:c.-254+1435_956del
NM_001369394.1:c.-253-5800_956del
NM_001369394.2:c.-253-5800_956del
NM_001386137.1:c.-535+1435_566del
NM_001386138.1:c.-534-5800_566del
NM_001386139.1:c.-534-5800_566del
NM_004992.4:c.27-5800_1235del