Canonical Allele Identifier: CA2697544867

Gene: MECP2

Linked Data

• ClinVar Variation Id: 2699187
• ClinVar RCV Id: RCV003523902

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097618_154097631del , CM000685.2:g.154097618_154097631del	GRCh38
NC_000023.10:g.153363075_153363088del , CM000685.1:g.153363075_153363088del	GRCh37
NC_000023.9:g.153016269_153016282del	NCBI36
NG_007107.2:g.44500_44513del
NG_007107.3:g.44482_44495del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-117_-104del MANE Plus Clinical	ENSP00000301948.6:n.-117_-104del
ENST00000453960.7:c.44_57del MANE Select	ENSP00000395535.2:p.Gly15GlufsTer22
ENST00000303391.10:c.-117_-104del	ENSP00000301948.6:n.-117_-104del
ENST00000369957.5:c.-117_-104del	ENSP00000358973.4:n.-117_-104del
ENST00000407218.5:c.44_57del	ENSP00000384865.2:p.Gly15GlufsTer22
ENST00000453960.6:c.44_57del	ENSP00000395535.2:p.Gly15GlufsTer22
ENST00000619732.4:c.-117_-104del	ENSP00000480973.1:n.-117_-104del
ENST00000627864.1:n.59_72del
ENST00000628176.2:c.-117_-104del	ENSP00000486978.1:n.-117_-104del
ENST00000631210.1:n.305+7159_305+7172del
NM_001110792.1:c.44_57del	NP_001104262.1:p.Gly15GlufsTer22
NM_001316337.1:c.-564_-551del	NP_001303266.1:n.-564_-551del
NM_004992.3:c.-117_-104del	NP_004983.1:n.-117_-104del
XM_005274682.3:c.-508_-495del	XP_005274739.1:n.-508_-495del
NM_001110792.2:c.44_57del MANE Select	NP_001104262.1:p.Gly15GlufsTer22
NM_001316337.2:c.-564_-551del	NP_001303266.1:n.-564_-551del
NM_001369391.2:c.-859_-846del	NP_001356320.1:n.-859_-846del
NM_001369392.2:c.-508_-495del	NP_001356321.1:n.-508_-495del
NM_001369393.2:c.-384_-371del	NP_001356322.1:n.-384_-371del
NM_001386137.1:c.-789_-776del	NP_001373066.1:n.-789_-776del
NM_001386138.1:c.-677_-664del	NP_001373067.1:n.-677_-664del
NM_001386139.1:c.-553_-540del	NP_001373068.1:n.-553_-540del
NM_004992.4:c.-117_-104del MANE Plus Clinical	NP_004983.1:n.-117_-104del