Canonical Allele Identifier: CA1139667879

Gene: MECP2

Linked Data

• ClinVar Variation Id: 948519
• ClinVar RCV Id: RCV001219789
• dbSNP Id: rs2065914451

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030634_154030848del , CM000685.2:g.154030634_154030848del	GRCh38
NC_000023.10:g.153296085_153296299del , CM000685.1:g.153296085_153296299del	GRCh37
NC_000023.9:g.152949279_152949493del	NCBI36
NG_007107.2:g.111283_111497del
NG_007107.3:g.111259_111473del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.983_1197del MANE Plus Clinical	ENSP00000301948.6:p.Leu328HisfsTer5
ENST00000453960.7:c.1019_1233del MANE Select	ENSP00000395535.2:p.Leu340HisfsTer5
ENST00000303391.10:c.983_1197del	ENSP00000301948.6:p.Leu328HisfsTer5
ENST00000407218.5:c.*355_*569del	ENSP00000384865.2:n.*355_*569del
ENST00000453960.6:c.1019_1233del	ENSP00000395535.2:p.Leu340HisfsTer5
ENST00000619732.4:c.983_1197del	ENSP00000480973.1:p.Leu328HisfsTer5
ENST00000628176.2:c.*355_*569del	ENSP00000486978.1:n.*355_*569del
NM_001110792.1:c.1019_1233del	NP_001104262.1:p.Leu340HisfsTer5
NM_001316337.1:c.704_918del	NP_001303266.1:p.Leu235HisfsTer5
NM_004992.3:c.983_1197del	NP_004983.1:p.Leu328HisfsTer5
XM_005274681.3:c.983_1197del	XP_005274738.1:p.Leu328HisfsTer5
XM_005274682.3:c.704_918del	XP_005274739.1:p.Leu235HisfsTer5
XM_005274683.3:c.704_918del	XP_005274740.1:p.Leu235HisfsTer5
XM_006724819.2:c.314_528del	XP_006724882.1:p.Leu105HisfsTer5
XM_011531166.1:c.704_918del	XP_011529468.1:p.Leu235HisfsTer5
XM_006724819.3:c.314_528del	XP_006724882.1:p.Leu105HisfsTer5
XM_011531166.2:c.704_918del	XP_011529468.1:p.Leu235HisfsTer5
XM_024452383.1:c.704_918del	XP_024308151.1:p.Leu235HisfsTer5
XM_024452384.1:c.704_918del	XP_024308152.1:p.Leu235HisfsTer5
NM_001110792.2:c.1019_1233del MANE Select	NP_001104262.1:p.Leu340HisfsTer5
NM_001316337.2:c.704_918del	NP_001303266.1:p.Leu235HisfsTer5
NM_001369391.2:c.704_918del	NP_001356320.1:p.Leu235HisfsTer5
NM_001369392.2:c.704_918del	NP_001356321.1:p.Leu235HisfsTer5
NM_001369393.2:c.704_918del	NP_001356322.1:p.Leu235HisfsTer5
NM_001369394.1:c.704_918del	NP_001356323.1:p.Leu235HisfsTer5
NM_001369394.2:c.704_918del	NP_001356323.1:p.Leu235HisfsTer5
NM_001386137.1:c.314_528del	NP_001373066.1:p.Leu105HisfsTer5
NM_001386138.1:c.314_528del	NP_001373067.1:p.Leu105HisfsTer5
NM_001386139.1:c.314_528del	NP_001373068.1:p.Leu105HisfsTer5
NM_004992.4:c.983_1197del MANE Plus Clinical	NP_004983.1:p.Leu328HisfsTer5