Canonical Allele Identifier: CA2695105437

Gene: MECP2

Linked Data

• gnomAD v4: X-154097633-TCCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097635_154097637del , CM000685.2:g.154097635_154097637del	GRCh38
NC_000023.10:g.153363092_153363094del , CM000685.1:g.153363092_153363094del	GRCh37
NC_000023.9:g.153016286_153016288del	NCBI36
NG_007107.2:g.44486_44488del
NG_007107.3:g.44468_44470del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-131_-129del MANE Plus Clinical	ENSP00000301948.6:n.-131_-129del
ENST00000453960.7:c.30_32del MANE Select	ENSP00000395535.2:p.Ser10_Gly11delinsArg
ENST00000303391.10:c.-131_-129del	ENSP00000301948.6:n.-131_-129del
ENST00000369957.5:c.-131_-129del	ENSP00000358973.4:n.-131_-129del
ENST00000407218.5:c.30_32del	ENSP00000384865.2:p.Ser10_Gly11delinsArg
ENST00000453960.6:c.30_32del	ENSP00000395535.2:p.Ser10_Gly11delinsArg
ENST00000619732.4:c.-131_-129del	ENSP00000480973.1:n.-131_-129del
ENST00000627864.1:n.45_47del
ENST00000628176.2:c.-131_-129del	ENSP00000486978.1:n.-131_-129del
ENST00000631210.1:n.305+7145_305+7147del
NM_001110792.1:c.30_32del	NP_001104262.1:p.Ser10_Gly11delinsArg
NM_001316337.1:c.-578_-576del	NP_001303266.1:n.-578_-576del
NM_004992.3:c.-131_-129del	NP_004983.1:n.-131_-129del
XM_005274682.3:c.-522_-520del	XP_005274739.1:n.-522_-520del
NM_001110792.2:c.30_32del MANE Select	NP_001104262.1:p.Ser10_Gly11delinsArg
NM_001316337.2:c.-578_-576del	NP_001303266.1:n.-578_-576del
NM_001369391.2:c.-873_-871del	NP_001356320.1:n.-873_-871del
NM_001369392.2:c.-522_-520del	NP_001356321.1:n.-522_-520del
NM_001369393.2:c.-398_-396del	NP_001356322.1:n.-398_-396del
NM_001386137.1:c.-803_-801del	NP_001373066.1:n.-803_-801del
NM_001386138.1:c.-691_-689del	NP_001373067.1:n.-691_-689del
NM_001386139.1:c.-567_-565del	NP_001373068.1:n.-567_-565del
NM_004992.4:c.-131_-129del MANE Plus Clinical	NP_004983.1:n.-131_-129del