Canonical Allele Identifier: CA198846

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143406
• ClinVar RCV Id: RCV000012595 ; RCV000132932 ; RCV000170102 ; RCV000169932 ; RCV000169931 ; RCV000170103 ; RCV000415090 ; RCV000491803 ; RCV000624849 ; RCV000768267 ; RCV001420272 ; RCV001002125 ; RCV003989323 ; RCV004528867
• dbSNP Id: rs61752992
• gnomAD v4: X-154030620-GGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGT-G
• MyVariant Identifiers: chrX:g.153296072_153296115del (hg19) ; chrX:g.154030621_154030664del (hg38)
• ERepo: CA198846/MONDO:0010726/016
• PubMed: PMID:8177735 ; PMID:10508514 ; PMID:10854091 ; PMID:11035019 ; PMID:11055898 ; PMID:11058114 ; PMID:11227330 ; PMID:11738883 ; PMID:12111643 ; PMID:12615169 ; PMID:12966523 ; PMID:15057977 ; PMID:15558314 ; PMID:16169931 ; PMID:16473305 ; PMID:16690727 ; PMID:16832102 ; PMID:16844334 ; PMID:17236109 ; PMID:17267601 ; PMID:17351020 ; PMID:17387578 ; PMID:18337588 ; PMID:19652677 ; PMID:20151026 ; PMID:21154482 ; PMID:21982064 ; PMID:23421866 ; PMID:23921973 ; PMID:24458799 ; PMID:26795593 ; PMID:27354166 ; PMID:27799067 ; PMID:28263302

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030627_154030670del , CM000685.2:g.154030627_154030670del	GRCh38
NC_000023.10:g.153296078_153296121del , CM000685.1:g.153296078_153296121del	GRCh37
NC_000023.9:g.152949272_152949315del	NCBI36
NG_007107.2:g.111464_111507del
NG_007107.3:g.111440_111483del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.1164_1207del MANE Plus Clinical	ENSP00000301948.6:p.Pro389Ter
ENST00000453960.7:c.1200_1243del MANE Select	ENSP00000395535.2:p.Pro401Ter
ENST00000303391.10:c.1164_1207del	ENSP00000301948.6:p.Pro389Ter
ENST00000407218.5:c.*536_*579del	ENSP00000384865.2:n.*536_*579del
ENST00000453960.6:c.1200_1243del	ENSP00000395535.2:p.Pro401Ter
ENST00000619732.4:c.1164_1207del	ENSP00000480973.1:p.Pro389Ter
ENST00000628176.2:c.*536_*579del	ENSP00000486978.1:n.*536_*579del
NM_001110792.1:c.1200_1243del	NP_001104262.1:p.Pro401Ter
NM_001316337.1:c.885_928del	NP_001303266.1:p.Pro296Ter
NM_004992.3:c.1164_1207del	NP_004983.1:p.Pro389Ter
XM_005274681.3:c.1164_1207del	XP_005274738.1:p.Pro389Ter
XM_005274682.3:c.885_928del	XP_005274739.1:p.Pro296Ter
XM_005274683.3:c.885_928del	XP_005274740.1:p.Pro296Ter
XM_006724819.2:c.495_538del	XP_006724882.1:p.Pro166Ter
XM_011531166.1:c.885_928del	XP_011529468.1:p.Pro296Ter
XM_006724819.3:c.495_538del	XP_006724882.1:p.Pro166Ter
XM_011531166.2:c.885_928del	XP_011529468.1:p.Pro296Ter
XM_024452383.1:c.885_928del	XP_024308151.1:p.Pro296Ter
XM_024452384.1:c.885_928del	XP_024308152.1:p.Pro296Ter
NM_001110792.2:c.1200_1243del MANE Select	NP_001104262.1:p.Pro401Ter
NM_001316337.2:c.885_928del	NP_001303266.1:p.Pro296Ter
NM_001369391.2:c.885_928del	NP_001356320.1:p.Pro296Ter
NM_001369392.2:c.885_928del	NP_001356321.1:p.Pro296Ter
NM_001369393.2:c.885_928del	NP_001356322.1:p.Pro296Ter
NM_001369394.1:c.885_928del	NP_001356323.1:p.Pro296Ter
NM_001369394.2:c.885_928del	NP_001356323.1:p.Pro296Ter
NM_001386137.1:c.495_538del	NP_001373066.1:p.Pro166Ter
NM_001386138.1:c.495_538del	NP_001373067.1:p.Pro166Ter
NM_001386139.1:c.495_538del	NP_001373068.1:p.Pro166Ter
NM_004992.4:c.1164_1207del MANE Plus Clinical	NP_004983.1:p.Pro389Ter