Canonical Allele Identifier: CA274833

Gene: MECP2

Linked Data

• ClinVar Variation Id: 192290
• ClinVar RCV Id: RCV000172864
• dbSNP Id: rs1557135110
• MyVariant Identifiers: chrX:g.153295996_153296116delinsTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACT (hg19) ; chrX:g.154030545_154030665delinsTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030545_154030665delinsTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACT , CM000685.2:g.154030545_154030665delinsTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACT	GRCh38
NC_000023.10:g.153295996_153296116delinsTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACT , CM000685.1:g.153295996_153296116delinsTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACT	GRCh37
NC_000023.9:g.152949190_152949310delinsTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACT	NCBI36
NG_007107.2:g.111463_111583delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA
NG_007107.3:g.111439_111559delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.1163_1283delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA MANE Plus Clinical	ENSP00000301948.6:p.Pro388GlnfsTer2
ENST00000453960.7:c.1199_1319delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA MANE Select	ENSP00000395535.2:p.Pro400GlnfsTer2
ENST00000303391.10:c.1163_1283delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	ENSP00000301948.6:p.Pro388GlnfsTer2
ENST00000453960.6:c.1199_1319delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	ENSP00000395535.2:p.Pro400GlnfsTer2
ENST00000619732.4:c.1163_1283delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	ENSP00000480973.1:p.Pro388GlnfsTer2
ENST00000628176.2:c.*535_*655delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	ENSP00000486978.1:n.*535_*655delinsAGTGAG...
NM_001110792.1:c.1199_1319delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	NP_001104262.1:p.Pro400GlnfsTer2
NM_001316337.1:c.884_1004delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	NP_001303266.1:p.Pro295GlnfsTer2
NM_004992.3:c.1163_1283delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	NP_004983.1:p.Pro388GlnfsTer2
XM_005274681.3:c.1163_1283delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	XP_005274738.1:p.Pro388GlnfsTer2
XM_005274682.3:c.884_1004delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	XP_005274739.1:p.Pro295GlnfsTer2
XM_005274683.3:c.884_1004delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	XP_005274740.1:p.Pro295GlnfsTer2
XM_006724819.2:c.494_614delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	XP_006724882.1:p.Pro165GlnfsTer2
XM_011531166.1:c.884_1004delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	XP_011529468.1:p.Pro295GlnfsTer2
XM_006724819.3:c.494_614delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	XP_006724882.1:p.Pro165GlnfsTer2
XM_011531166.2:c.884_1004delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	XP_011529468.1:p.Pro295GlnfsTer2
XM_024452383.1:c.884_1004delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	XP_024308151.1:p.Pro295GlnfsTer2
XM_024452384.1:c.884_1004delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	XP_024308152.1:p.Pro295GlnfsTer2
NM_001110792.2:c.1199_1319delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA MANE Select	NP_001104262.1:p.Pro400GlnfsTer2
NM_001316337.2:c.884_1004delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	NP_001303266.1:p.Pro295GlnfsTer2
NM_001369391.2:c.884_1004delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	NP_001356320.1:p.Pro295GlnfsTer2
NM_001369392.2:c.884_1004delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	NP_001356321.1:p.Pro295GlnfsTer2
NM_001369393.2:c.884_1004delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	NP_001356322.1:p.Pro295GlnfsTer2
NM_001369394.1:c.884_1004delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	NP_001356323.1:p.Pro295GlnfsTer2
NM_001369394.2:c.884_1004delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	NP_001356323.1:p.Pro295GlnfsTer2
NM_001386137.1:c.494_614delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	NP_001373066.1:p.Pro165GlnfsTer2
NM_001386138.1:c.494_614delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	NP_001373067.1:p.Pro165GlnfsTer2
NM_001386139.1:c.494_614delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA	NP_001373068.1:p.Pro165GlnfsTer2
NM_004992.4:c.1163_1283delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA MANE Plus Clinical	NP_004983.1:p.Pro388GlnfsTer2