Canonical Allele Identifier: CA273849

Gene: MECP2

Linked Data

• MyVariant Identifiers: chrX:g.153295774_153296452del (hg19) ; chrX:g.154030323_154031001del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030325_154031003del , CM000685.2:g.154030325_154031003del	GRCh38
NC_000023.10:g.153295776_153296454del , CM000685.1:g.153295776_153296454del	GRCh37
NC_000023.9:g.152948970_152949648del	NCBI36
NG_007107.2:g.111127_111805del
NG_007107.3:g.111103_111781del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.827_*44del MANE Plus Clinical	ENSP00000301948.6:n.[c.827_*44del;Val276A...
ENST00000453960.7:c.863_*44del MANE Select	ENSP00000395535.2:n.[c.863_*44del;Val288A...
ENST00000303391.10:c.827_*44del	ENSP00000301948.6:n.[c.827_*44del;Val276A...
ENST00000453960.6:c.863_*44del	ENSP00000395535.2:n.[c.863_*44del;Val288A...
ENST00000619732.4:c.827_1501del
ENST00000628176.2:c.*199_*877del	ENSP00000486978.1:n.*199_*877del
NM_001110792.1:c.863_*44del	NP_001104262.1:n.[c.863_*44del;Val288Alaf...
NM_001316337.1:c.548_*44del	NP_001303266.1:n.[c.548_*44del;Val183Alaf...
NM_004992.3:c.827_*44del	NP_004983.1:n.[c.827_*44del;Val276AlafsTe...
XM_005274681.3:c.827_*44del	XP_005274738.1:n.[c.827_*44del;Val276Alaf...
XM_005274682.3:c.548_*44del	XP_005274739.1:n.[c.548_*44del;Val183Alaf...
XM_005274683.3:c.548_*44del	XP_005274740.1:n.[c.548_*44del;Val183Alaf...
XM_006724819.2:c.158_*44del	XP_006724882.1:n.[c.158_*44del;Val53Alafs...
XM_011531166.1:c.548_*44del	XP_011529468.1:n.[c.548_*44del;Val183Alaf...
XM_006724819.3:c.158_*44del	XP_006724882.1:n.[c.158_*44del;Val53Alafs...
XM_011531166.2:c.548_*44del	XP_011529468.1:n.[c.548_*44del;Val183Alaf...
XM_024452383.1:c.548_*44del	XP_024308151.1:n.[c.548_*44del;Val183Alaf...
XM_024452384.1:c.548_*44del	XP_024308152.1:n.[c.548_*44del;Val183Alaf...
NM_001110792.2:c.863_*44del MANE Select	NP_001104262.1:n.[c.863_*44del;Val288Alaf...
NM_001316337.2:c.548_*44del	NP_001303266.1:n.[c.548_*44del;Val183Alaf...
NM_001369391.2:c.548_*44del	NP_001356320.1:n.[c.548_*44del;Val183Alaf...
NM_001369392.2:c.548_*44del	NP_001356321.1:n.[c.548_*44del;Val183Alaf...
NM_001369393.2:c.548_*44del	NP_001356322.1:n.[c.548_*44del;Val183Alaf...
NM_001369394.1:c.548_*44del	NP_001356323.1:n.[c.548_*44del;Val183Alaf...
NM_001369394.2:c.548_*44del	NP_001356323.1:n.[c.548_*44del;Val183Alaf...
NM_001386137.1:c.158_*44del	NP_001373066.1:n.[c.158_*44del;Val53Alafs...
NM_001386138.1:c.158_*44del	NP_001373067.1:n.[c.158_*44del;Val53Alafs...
NM_001386139.1:c.158_*44del	NP_001373068.1:n.[c.158_*44del;Val53Alafs...
NM_004992.4:c.827_*44del MANE Plus Clinical	NP_004983.1:n.[c.827_*44del;Val276AlafsTe...