Canonical Allele Identifier: CA270291

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143486
• ClinVar RCV Id: RCV000133017
• dbSNP Id: rs267608641
• MyVariant Identifiers: chrX:g.153295823_153295824dupTA (hg19) ; chrX:g.153295822_153295823insTA (hg19) ; chrX:g.154030372_154030373dupTA (hg38) ; chrX:g.154030371_154030372insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030372_154030373dup , CM000685.2:g.154030372_154030373dup	GRCh38
NC_000023.10:g.153295823_153295824dup , CM000685.1:g.153295823_153295824dup	GRCh37
NC_000023.9:g.152949017_152949018dup	NCBI36
NG_007107.2:g.111755_111756dup
NG_007107.3:g.111731_111732dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.1455_1456dup MANE Plus Clinical	ENSP00000301948.6:p.Ser486IlefsTer27
ENST00000453960.7:c.1491_1492dup MANE Select	ENSP00000395535.2:p.Ser498IlefsTer27
ENST00000303391.10:c.1455_1456dup	ENSP00000301948.6:p.Ser486IlefsTer27
ENST00000453960.6:c.1491_1492dup	ENSP00000395535.2:p.Ser498IlefsTer27
ENST00000619732.4:c.1451_1452dup	ENSP00000480973.1:p.Ala485Ter
ENST00000628176.2:c.*827_*828dup	ENSP00000486978.1:n.*827_*828dup
NM_001110792.1:c.1491_1492dup	NP_001104262.1:p.Ser498IlefsTer27
NM_001316337.1:c.1176_1177dup	NP_001303266.1:p.Ser393IlefsTer27
NM_004992.3:c.1455_1456dup	NP_004983.1:p.Ser486IlefsTer27
XM_005274681.3:c.1455_1456dup	XP_005274738.1:p.Ser486IlefsTer27
XM_005274682.3:c.1176_1177dup	XP_005274739.1:p.Ser393IlefsTer27
XM_005274683.3:c.1176_1177dup	XP_005274740.1:p.Ser393IlefsTer27
XM_006724819.2:c.786_787dup	XP_006724882.1:p.Ser263IlefsTer27
XM_011531166.1:c.1176_1177dup	XP_011529468.1:p.Ser393IlefsTer27
XM_006724819.3:c.786_787dup	XP_006724882.1:p.Ser263IlefsTer27
XM_011531166.2:c.1176_1177dup	XP_011529468.1:p.Ser393IlefsTer27
XM_024452383.1:c.1176_1177dup	XP_024308151.1:p.Ser393IlefsTer27
XM_024452384.1:c.1176_1177dup	XP_024308152.1:p.Ser393IlefsTer27
NM_001110792.2:c.1491_1492dup MANE Select	NP_001104262.1:p.Ser498IlefsTer27
NM_001316337.2:c.1176_1177dup	NP_001303266.1:p.Ser393IlefsTer27
NM_001369391.2:c.1176_1177dup	NP_001356320.1:p.Ser393IlefsTer27
NM_001369392.2:c.1176_1177dup	NP_001356321.1:p.Ser393IlefsTer27
NM_001369393.2:c.1176_1177dup	NP_001356322.1:p.Ser393IlefsTer27
NM_001369394.1:c.1176_1177dup	NP_001356323.1:p.Ser393IlefsTer27
NM_001369394.2:c.1176_1177dup	NP_001356323.1:p.Ser393IlefsTer27
NM_001386137.1:c.786_787dup	NP_001373066.1:p.Ser263IlefsTer27
NM_001386138.1:c.786_787dup	NP_001373067.1:p.Ser263IlefsTer27
NM_001386139.1:c.786_787dup	NP_001373068.1:p.Ser263IlefsTer27
NM_004992.4:c.1455_1456dup MANE Plus Clinical	NP_004983.1:p.Ser486IlefsTer27