Canonical Allele Identifier: CA2580101880

Gene: MECP2

Linked Data

• ClinVar Variation Id: 2063737
• ClinVar RCV Id: RCV002942926

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030564_154030789delinsAGTGGCACGGGGGCCTTTGG , CM000685.2:g.154030564_154030789delinsAGTGGCACGGGGGCCTTTGG	GRCh38
NC_000023.10:g.153296015_153296240delinsAGTGGCACGGGGGCCTTTGG , CM000685.1:g.153296015_153296240delinsAGTGGCACGGGGGCCTTTGG	GRCh37
NC_000023.9:g.152949209_152949434delinsAGTGGCACGGGGGCCTTTGG	NCBI36
NG_007107.2:g.111339_111564delinsCCAAAGGCCCCCGTGCCACT
NG_007107.3:g.111315_111540delinsCCAAAGGCCCCCGTGCCACT

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.1039_1264delinsCCAAAGGCCCCCGTGCCACT MANE Plus Clinical	ENSP00000301948.6:p.Lys347ProfsTer20
ENST00000453960.7:c.1075_1300delinsCCAAAGGCCCCCGTGCCACT MANE Select	ENSP00000395535.2:p.Lys359ProfsTer20
ENST00000303391.10:c.1039_1264delinsCCAAAGGCCCCCGTGCCACT	ENSP00000301948.6:p.Lys347ProfsTer20
ENST00000453960.6:c.1075_1300delinsCCAAAGGCCCCCGTGCCACT	ENSP00000395535.2:p.Lys359ProfsTer20
ENST00000619732.4:c.1039_1264delinsCCAAAGGCCCCCGTGCCACT	ENSP00000480973.1:p.Lys347ProfsTer20
ENST00000628176.2:c.*411_*636delinsCCAAAGGCCCCCGTGCCACT	ENSP00000486978.1:n.*411_*636delinsCCAAAG...
NM_001110792.1:c.1075_1300delinsCCAAAGGCCCCCGTGCCACT	NP_001104262.1:p.Lys359ProfsTer20
NM_001316337.1:c.760_985delinsCCAAAGGCCCCCGTGCCACT	NP_001303266.1:p.Lys254ProfsTer20
NM_004992.3:c.1039_1264delinsCCAAAGGCCCCCGTGCCACT	NP_004983.1:p.Lys347ProfsTer20
XM_005274681.3:c.1039_1264delinsCCAAAGGCCCCCGTGCCACT	XP_005274738.1:p.Lys347ProfsTer20
XM_005274682.3:c.760_985delinsCCAAAGGCCCCCGTGCCACT	XP_005274739.1:p.Lys254ProfsTer20
XM_005274683.3:c.760_985delinsCCAAAGGCCCCCGTGCCACT	XP_005274740.1:p.Lys254ProfsTer20
XM_006724819.2:c.370_595delinsCCAAAGGCCCCCGTGCCACT	XP_006724882.1:p.Lys124ProfsTer20
XM_011531166.1:c.760_985delinsCCAAAGGCCCCCGTGCCACT	XP_011529468.1:p.Lys254ProfsTer20
XM_006724819.3:c.370_595delinsCCAAAGGCCCCCGTGCCACT	XP_006724882.1:p.Lys124ProfsTer20
XM_011531166.2:c.760_985delinsCCAAAGGCCCCCGTGCCACT	XP_011529468.1:p.Lys254ProfsTer20
XM_024452383.1:c.760_985delinsCCAAAGGCCCCCGTGCCACT	XP_024308151.1:p.Lys254ProfsTer20
XM_024452384.1:c.760_985delinsCCAAAGGCCCCCGTGCCACT	XP_024308152.1:p.Lys254ProfsTer20
NM_001110792.2:c.1075_1300delinsCCAAAGGCCCCCGTGCCACT MANE Select	NP_001104262.1:p.Lys359ProfsTer20
NM_001316337.2:c.760_985delinsCCAAAGGCCCCCGTGCCACT	NP_001303266.1:p.Lys254ProfsTer20
NM_001369391.2:c.760_985delinsCCAAAGGCCCCCGTGCCACT	NP_001356320.1:p.Lys254ProfsTer20
NM_001369392.2:c.760_985delinsCCAAAGGCCCCCGTGCCACT	NP_001356321.1:p.Lys254ProfsTer20
NM_001369393.2:c.760_985delinsCCAAAGGCCCCCGTGCCACT	NP_001356322.1:p.Lys254ProfsTer20
NM_001369394.1:c.760_985delinsCCAAAGGCCCCCGTGCCACT	NP_001356323.1:p.Lys254ProfsTer20
NM_001369394.2:c.760_985delinsCCAAAGGCCCCCGTGCCACT	NP_001356323.1:p.Lys254ProfsTer20
NM_001386137.1:c.370_595delinsCCAAAGGCCCCCGTGCCACT	NP_001373066.1:p.Lys124ProfsTer20
NM_001386138.1:c.370_595delinsCCAAAGGCCCCCGTGCCACT	NP_001373067.1:p.Lys124ProfsTer20
NM_001386139.1:c.370_595delinsCCAAAGGCCCCCGTGCCACT	NP_001373068.1:p.Lys124ProfsTer20
NM_004992.4:c.1039_1264delinsCCAAAGGCCCCCGTGCCACT MANE Plus Clinical	NP_004983.1:p.Lys347ProfsTer20