Canonical Allele Identifier: CA2739273839

Gene: MECP2

Linked Data

• ClinVar Variation Id: 2858590
• ClinVar RCV Id: RCV003640344

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097651_154097667del , CM000685.2:g.154097651_154097667del	GRCh38
NC_000023.10:g.153363108_153363124del , CM000685.1:g.153363108_153363124del	GRCh37
NC_000023.9:g.153016302_153016318del	NCBI36
NG_007107.2:g.44455_44471del
NG_007107.3:g.44437_44453del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.-162_-146del MANE Plus Clinical	ENSP00000301948.6:n.-162_-146del
ENST00000453960.7:c.-2_15del
ENST00000303391.10:c.-162_-146del	ENSP00000301948.6:n.-162_-146del
ENST00000407218.5:c.-2_15del
ENST00000453960.6:c.-2_15del
ENST00000619732.4:c.-162_-146del	ENSP00000480973.1:n.-162_-146del
ENST00000627864.1:n.14_30del
ENST00000628176.2:c.-162_-146del	ENSP00000486978.1:n.-162_-146del
ENST00000631210.1:n.305+7114_305+7130del
NM_001110792.1:c.-2_15del
NM_001316337.1:c.-609_-593del	NP_001303266.1:n.-609_-593del
NM_004992.3:c.-162_-146del	NP_004983.1:n.-162_-146del
XM_005274682.3:c.-553_-537del	XP_005274739.1:n.-553_-537del
NM_001110792.2:c.-2_15del
NM_001316337.2:c.-609_-593del	NP_001303266.1:n.-609_-593del
NM_001369391.2:c.-904_-888del	NP_001356320.1:n.-904_-888del
NM_001369392.2:c.-553_-537del	NP_001356321.1:n.-553_-537del
NM_001369393.2:c.-429_-413del	NP_001356322.1:n.-429_-413del
NM_001386137.1:c.-834_-818del	NP_001373066.1:n.-834_-818del
NM_001386138.1:c.-722_-706del	NP_001373067.1:n.-722_-706del
NM_001386139.1:c.-598_-582del	NP_001373068.1:n.-598_-582del
NM_004992.4:c.-162_-146del MANE Plus Clinical	NP_004983.1:n.-162_-146del