Canonical Allele Identifier: CA645168998

Gene: MECP2

Linked Data

• dbSNP Id: rs1557134027
• gnomAD v2: X-153294799-ATC-A
• gnomAD v3: X-154029348-ATC-A
• gnomAD v4: X-154029348-ATC-A
• MyVariant Identifiers: chrX:g.153294800_153294801del (hg19) ; chrX:g.154029349_154029350del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154029350_154029351del , CM000685.2:g.154029350_154029351del	GRCh38
NC_000023.10:g.153294801_153294802del , CM000685.1:g.153294801_153294802del	GRCh37
NC_000023.9:g.152947995_152947996del	NCBI36
NG_007107.2:g.112778_112779del
NG_007107.3:g.112754_112755del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.*1017_*1018del MANE Plus Clinical	ENSP00000301948.6:n.*1017_*1018del
ENST00000453960.7:c.*1017_*1018del MANE Select	ENSP00000395535.2:n.*1017_*1018del
ENST00000303391.10:c.*1017_*1018del	ENSP00000301948.6:n.*1017_*1018del
ENST00000619732.4:c.*944_*945del	ENSP00000480973.1:n.*944_*945del
NM_004992.3:c.*1017_*1018del	NP_004983.1:n.*1017_*1018del
XM_005274681.3:c.*1017_*1018del	XP_005274738.1:n.*1017_*1018del
XM_005274682.3:c.*1017_*1018del	XP_005274739.1:n.*1017_*1018del
XM_005274683.3:c.*1017_*1018del	XP_005274740.1:n.*1017_*1018del
XM_006724819.2:c.*1017_*1018del	XP_006724882.1:n.*1017_*1018del
XM_011531166.1:c.*1017_*1018del	XP_011529468.1:n.*1017_*1018del
XM_006724819.3:c.*1017_*1018del	XP_006724882.1:n.*1017_*1018del
XM_011531166.2:c.*1017_*1018del	XP_011529468.1:n.*1017_*1018del
XM_024452383.1:c.*1017_*1018del	XP_024308151.1:n.*1017_*1018del
XM_024452384.1:c.*1017_*1018del	XP_024308152.1:n.*1017_*1018del
NM_001110792.2:c.*1017_*1018del MANE Select	NP_001104262.1:n.*1017_*1018del
NM_001316337.2:c.*1017_*1018del	NP_001303266.1:n.*1017_*1018del
NM_001369391.2:c.*1017_*1018del	NP_001356320.1:n.*1017_*1018del
NM_001369392.2:c.*1017_*1018del	NP_001356321.1:n.*1017_*1018del
NM_001369393.2:c.*1017_*1018del	NP_001356322.1:n.*1017_*1018del
NM_001369394.2:c.*1017_*1018del	NP_001356323.1:n.*1017_*1018del
NM_001386137.1:c.*1017_*1018del	NP_001373066.1:n.*1017_*1018del
NM_001386138.1:c.*1017_*1018del	NP_001373067.1:n.*1017_*1018del
NM_001386139.1:c.*1017_*1018del	NP_001373068.1:n.*1017_*1018del
NM_004992.4:c.*1017_*1018del MANE Plus Clinical	NP_004983.1:n.*1017_*1018del