Canonical Allele Identifier: CA2466570788
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031071_154031139delinsTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTG , CM000685.2:g.154031071_154031139delinsTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTG GRCh38
NC_000023.10:g.153296522_153296590delinsTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTG , CM000685.1:g.153296522_153296590delinsTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTG GRCh37
NC_000023.9:g.152949716_152949784delinsTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTG NCBI36
NG_007107.2:g.110989_111057delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA
NG_007107.3:g.110965_111033delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.689_757delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA MANE Plus Clinical ENSP00000301948.6:p.Pro230=
ENST00000453960.7:c.725_793delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA MANE Select ENSP00000395535.2:p.Pro242=
ENST00000637917.1:c.66-203_66-135delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA
ENST00000303391.10:c.689_757delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA ENSP00000301948.6:p.Pro230=
ENST00000407218.5:c.*61_*129delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA ENSP00000384865.2:n.*61_*129delinsCAGGGGG...
ENST00000453960.6:c.725_793delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA ENSP00000395535.2:p.Pro242=
ENST00000619732.4:c.689_757delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA ENSP00000480973.1:p.Pro230=
ENST00000622433.4:c.677_745delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA ENSP00000484470.1:p.Pro226=
ENST00000628176.2:c.*61_*129delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA ENSP00000486978.1:n.*61_*129delinsCAGGGGG...
NM_001110792.1:c.725_793delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA NP_001104262.1:p.Pro242=
NM_001316337.1:c.410_478delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA NP_001303266.1:p.Pro137=
NM_004992.3:c.689_757delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA NP_004983.1:p.Pro230=
XM_005274681.3:c.689_757delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA XP_005274738.1:p.Pro230=
XM_005274682.3:c.410_478delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA XP_005274739.1:p.Pro137=
XM_005274683.3:c.410_478delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA XP_005274740.1:p.Pro137=
XM_006724819.2:c.20_88delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA XP_006724882.1:p.Pro7=
XM_011531166.1:c.410_478delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA XP_011529468.1:p.Pro137=
XM_006724819.3:c.20_88delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA XP_006724882.1:p.Pro7=
XM_011531166.2:c.410_478delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA XP_011529468.1:p.Pro137=
XM_024452383.1:c.410_478delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA XP_024308151.1:p.Pro137=
XM_024452384.1:c.410_478delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA XP_024308152.1:p.Pro137=
NM_001110792.2:c.725_793delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA MANE Select NP_001104262.1:p.Pro242=
NM_001316337.2:c.410_478delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA NP_001303266.1:p.Pro137=
NM_001369391.2:c.410_478delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA NP_001356320.1:p.Pro137=
NM_001369392.2:c.410_478delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA NP_001356321.1:p.Pro137=
NM_001369393.2:c.410_478delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA NP_001356322.1:p.Pro137=
NM_001369394.1:c.410_478delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA NP_001356323.1:p.Pro137=
NM_001369394.2:c.410_478delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA NP_001356323.1:p.Pro137=
NM_001386137.1:c.20_88delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA NP_001373066.1:p.Pro7=
NM_001386138.1:c.20_88delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA NP_001373067.1:p.Pro7=
NM_001386139.1:c.20_88delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA NP_001373068.1:p.Pro7=
NM_004992.4:c.689_757delinsCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCA MANE Plus Clinical NP_004983.1:p.Pro230=