Canonical Allele Identifier: CA915952031

Gene: MECP2

Linked Data

• ClinVar Variation Id: 817508
• ClinVar RCV Id: RCV001008640 ; RCV001249299
• dbSNP Id: rs1603310755

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032289dup , CM000685.2:g.154032289dup	GRCh38
NC_000023.10:g.153297740dup , CM000685.1:g.153297740dup	GRCh37
NC_000023.9:g.152950934dup	NCBI36
NG_007107.2:g.109839dup
NG_007107.3:g.109815dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.295dup MANE Plus Clinical	ENSP00000301948.6:p.Thr99AsnfsTer4
ENST00000453960.7:c.331dup MANE Select	ENSP00000395535.2:p.Thr111AsnfsTer4
ENST00000303391.10:c.295dup	ENSP00000301948.6:p.Thr99AsnfsTer4
ENST00000369957.5:c.*349dup	ENSP00000358973.4:n.*349dup
ENST00000407218.5:c.331dup	ENSP00000384865.2:p.Thr111AsnfsTer4
ENST00000453960.6:c.331dup	ENSP00000395535.2:p.Thr111AsnfsTer4
ENST00000486506.5:n.2643dup
ENST00000611468.1:c.283dup	ENSP00000479736.1:p.Thr95AsnfsTer4
ENST00000619732.4:c.295dup	ENSP00000480973.1:p.Thr99AsnfsTer4
ENST00000622433.4:c.283dup	ENSP00000484470.1:p.Thr95AsnfsTer4
ENST00000628176.2:c.295dup	ENSP00000486978.1:p.Thr99AsnfsTer4
NM_001110792.1:c.331dup	NP_001104262.1:p.Thr111AsnfsTer4
NM_001316337.1:c.16dup	NP_001303266.1:p.Thr6AsnfsTer4
NM_004992.3:c.295dup	NP_004983.1:p.Thr99AsnfsTer4
XM_005274681.3:c.295dup	XP_005274738.1:p.Thr99AsnfsTer4
XM_005274682.3:c.16dup	XP_005274739.1:p.Thr6AsnfsTer4
XM_005274683.3:c.16dup	XP_005274740.1:p.Thr6AsnfsTer4
XM_011531166.1:c.16dup	XP_011529468.1:p.Thr6AsnfsTer4
XM_006724819.3:c.-266dup	XP_006724882.1:n.-266dup
XM_011531166.2:c.16dup	XP_011529468.1:p.Thr6AsnfsTer4
XM_024452383.1:c.16dup	XP_024308151.1:p.Thr6AsnfsTer4
XM_024452384.1:c.16dup	XP_024308152.1:p.Thr6AsnfsTer4
NM_001110792.2:c.331dup MANE Select	NP_001104262.1:p.Thr111AsnfsTer4
NM_001316337.2:c.16dup	NP_001303266.1:p.Thr6AsnfsTer4
NM_001369391.2:c.16dup	NP_001356320.1:p.Thr6AsnfsTer4
NM_001369392.2:c.16dup	NP_001356321.1:p.Thr6AsnfsTer4
NM_001369393.2:c.16dup	NP_001356322.1:p.Thr6AsnfsTer4
NM_001369394.1:c.16dup	NP_001356323.1:p.Thr6AsnfsTer4
NM_001369394.2:c.16dup	NP_001356323.1:p.Thr6AsnfsTer4
NM_001386137.1:c.-266dup	NP_001373066.1:n.-266dup
NM_001386138.1:c.-266dup	NP_001373067.1:n.-266dup
NM_001386139.1:c.-266dup	NP_001373068.1:n.-266dup
NM_004992.4:c.295dup MANE Plus Clinical	NP_004983.1:p.Thr99AsnfsTer4