Canonical Allele Identifier: CA232960

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143506
• ClinVar RCV Id: RCV000133037 ; RCV003389404
• dbSNP Id: rs63749009
• MyVariant Identifiers: chrX:g.153297797_153297806del (hg19) ; chrX:g.154032346_154032355del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032346_154032355del , CM000685.2:g.154032346_154032355del	GRCh38
NC_000023.10:g.153297797_153297806del , CM000685.1:g.153297797_153297806del	GRCh37
NC_000023.9:g.152950991_152951000del	NCBI36
NG_007107.2:g.109773_109782del
NG_007107.3:g.109749_109758del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.229_238del MANE Plus Clinical	ENSP00000301948.6:p.Ala77ProfsTer?
ENST00000453960.7:c.265_274del MANE Select	ENSP00000395535.2:p.Ala89ProfsTer?
ENST00000303391.10:c.229_238del	ENSP00000301948.6:p.Ala77ProfsTer?
ENST00000369957.5:c.*283_*292del	ENSP00000358973.4:n.*283_*292del
ENST00000407218.5:c.265_274del	ENSP00000384865.2:p.Ala89ProfsTer?
ENST00000453960.6:c.265_274del	ENSP00000395535.2:p.Ala89ProfsTer?
ENST00000486506.5:n.2577_2586del
ENST00000611468.1:c.217_226del	ENSP00000479736.1:p.Ala73ProfsTer?
ENST00000619732.4:c.229_238del	ENSP00000480973.1:p.Ala77ProfsTer?
ENST00000622433.4:c.217_226del	ENSP00000484470.1:p.Ala73ProfsTer?
ENST00000628176.2:c.229_238del	ENSP00000486978.1:p.Ala77ProfsTer?
NM_001110792.1:c.265_274del	NP_001104262.1:p.Ala89ProfsTer?
NM_001316337.1:c.-51_-42del	NP_001303266.1:n.-51_-42del
NM_004992.3:c.229_238del	NP_004983.1:p.Ala77ProfsTer?
XM_005274681.3:c.229_238del	XP_005274738.1:p.Ala77ProfsTer?
XM_005274682.3:c.-51_-42del	XP_005274739.1:n.-51_-42del
XM_005274683.3:c.-51_-42del	XP_005274740.1:n.-51_-42del
XM_011531166.1:c.-51_-42del	XP_011529468.1:n.-51_-42del
XM_006724819.3:c.-332_-323del	XP_006724882.1:n.-332_-323del
XM_011531166.2:c.-51_-42del	XP_011529468.1:n.-51_-42del
XM_024452383.1:c.-51_-42del	XP_024308151.1:n.-51_-42del
XM_024452384.1:c.-51_-42del	XP_024308152.1:n.-51_-42del
NM_001110792.2:c.265_274del MANE Select	NP_001104262.1:p.Ala89ProfsTer?
NM_001316337.2:c.-51_-42del	NP_001303266.1:n.-51_-42del
NM_001369391.2:c.-51_-42del	NP_001356320.1:n.-51_-42del
NM_001369392.2:c.-51_-42del	NP_001356321.1:n.-51_-42del
NM_001369393.2:c.-51_-42del	NP_001356322.1:n.-51_-42del
NM_001369394.1:c.-51_-42del	NP_001356323.1:n.-51_-42del
NM_001369394.2:c.-51_-42del	NP_001356323.1:n.-51_-42del
NM_001386137.1:c.-332_-323del	NP_001373066.1:n.-332_-323del
NM_001386138.1:c.-332_-323del	NP_001373067.1:n.-332_-323del
NM_001386139.1:c.-332_-323del	NP_001373068.1:n.-332_-323del
NM_004992.4:c.229_238del MANE Plus Clinical	NP_004983.1:p.Ala77ProfsTer?