Canonical Allele Identifier: CA10558417

Gene: MECP2

Linked Data

• dbSNP Id: rs781999655
• ExAC: X:153295784 T / TGTTGG
• gnomAD v2: X-153295784-T-TGTTGG
• gnomAD v3: X-154030333-T-TGTTGG
• gnomAD v4: X-154030333-T-TGTTGG
• MyVariant Identifiers: chrX:g.153295784_153295785insGTTGG (hg19) ; chrX:g.154030333_154030334insGTTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030334_154030338dup , CM000685.2:g.154030334_154030338dup	GRCh38
NC_000023.10:g.153295785_153295789dup , CM000685.1:g.153295785_153295789dup	GRCh37
NC_000023.9:g.152948979_152948983dup	NCBI36
NG_007107.2:g.111790_111794dup
NG_007107.3:g.111766_111770dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.*29_*33dup MANE Plus Clinical	ENSP00000301948.6:n.*29_*33dup
ENST00000453960.7:c.*29_*33dup MANE Select	ENSP00000395535.2:n.*29_*33dup
ENST00000303391.10:c.*29_*33dup	ENSP00000301948.6:n.*29_*33dup
ENST00000453960.6:c.*29_*33dup	ENSP00000395535.2:n.*29_*33dup
ENST00000619732.4:c.1486_1490dup	ENSP00000480973.1:p.Arg498GlnfsTer4
ENST00000628176.2:c.*862_*866dup	ENSP00000486978.1:n.*862_*866dup
NM_001110792.1:c.*29_*33dup	NP_001104262.1:n.*29_*33dup
NM_001316337.1:c.*29_*33dup	NP_001303266.1:n.*29_*33dup
NM_004992.3:c.*29_*33dup	NP_004983.1:n.*29_*33dup
XM_005274681.3:c.*29_*33dup	XP_005274738.1:n.*29_*33dup
XM_005274682.3:c.*29_*33dup	XP_005274739.1:n.*29_*33dup
XM_005274683.3:c.*29_*33dup	XP_005274740.1:n.*29_*33dup
XM_006724819.2:c.*29_*33dup	XP_006724882.1:n.*29_*33dup
XM_011531166.1:c.*29_*33dup	XP_011529468.1:n.*29_*33dup
XM_006724819.3:c.*29_*33dup	XP_006724882.1:n.*29_*33dup
XM_011531166.2:c.*29_*33dup	XP_011529468.1:n.*29_*33dup
XM_024452383.1:c.*29_*33dup	XP_024308151.1:n.*29_*33dup
XM_024452384.1:c.*29_*33dup	XP_024308152.1:n.*29_*33dup
NM_001110792.2:c.*29_*33dup MANE Select	NP_001104262.1:n.*29_*33dup
NM_001316337.2:c.*29_*33dup	NP_001303266.1:n.*29_*33dup
NM_001369391.2:c.*29_*33dup	NP_001356320.1:n.*29_*33dup
NM_001369392.2:c.*29_*33dup	NP_001356321.1:n.*29_*33dup
NM_001369393.2:c.*29_*33dup	NP_001356322.1:n.*29_*33dup
NM_001369394.1:c.*29_*33dup	NP_001356323.1:n.*29_*33dup
NM_001369394.2:c.*29_*33dup	NP_001356323.1:n.*29_*33dup
NM_001386137.1:c.*29_*33dup	NP_001373066.1:n.*29_*33dup
NM_001386138.1:c.*29_*33dup	NP_001373067.1:n.*29_*33dup
NM_001386139.1:c.*29_*33dup	NP_001373068.1:n.*29_*33dup
NM_004992.4:c.*29_*33dup MANE Plus Clinical	NP_004983.1:n.*29_*33dup