Canonical Allele Identifier: CA2739243597
Gene: MECP2 HGNC NCBI

Linked Data

dbSNP Id: rs2148664415

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031453_154031454insATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCT , CM000685.2:g.154031453_154031454insATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCT GRCh38
NC_000023.10:g.153296904_153296905insATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCT , CM000685.1:g.153296904_153296905insATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCT GRCh37
NC_000023.9:g.152950098_152950099insATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCT NCBI36
NG_007107.2:g.110674_110675insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT
NG_007107.3:g.110650_110651insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.378-4_378-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT MANE Plus Clinical ENSP00000301948.6:n.378-4_378-3insAGGAAATCTGGCCGCTCTGCTGGGAAG...
ENST00000453960.7:c.414-4_414-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT MANE Select ENSP00000395535.2:n.414-4_414-3insAGGAAATCTGGCCGCTCTGCTGGGAAG...
ENST00000637917.1:c.11-4_11-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT
ENST00000303391.10:c.378-4_378-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT ENSP00000301948.6:n.378-4_378-3insAGGAAATCTGGCCGCTCTGCTGGGAAG...
ENST00000369957.5:c.*432-4_*432-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT ENSP00000358973.4:n.*432-4_*432-3insAGGAAATCTGGCCGCTCTGCTGGGA...
ENST00000407218.5:c.414-4_414-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT ENSP00000384865.2:n.414-4_414-3insAGGAAATCTGGCCGCTCTGCTGGGAAG...
ENST00000453960.6:c.414-4_414-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT ENSP00000395535.2:n.414-4_414-3insAGGAAATCTGGCCGCTCTGCTGGGAAG...
ENST00000486506.5:n.2726-4_2726-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT
ENST00000611468.1:c.366-4_366-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT ENSP00000479736.1:n.366-4_366-3insAGGAAATCTGGCCGCTCTGCTGGGAAG...
ENST00000619732.4:c.378-4_378-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT ENSP00000480973.1:n.378-4_378-3insAGGAAATCTGGCCGCTCTGCTGGGAAG...
ENST00000622433.4:c.366-4_366-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT ENSP00000484470.1:n.366-4_366-3insAGGAAATCTGGCCGCTCTGCTGGGAAG...
ENST00000628176.2:c.378-4_378-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT ENSP00000486978.1:n.378-4_378-3insAGGAAATCTGGCCGCTCTGCTGGGAAG...
NM_001110792.1:c.414-4_414-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT NP_001104262.1:n.414-4_414-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTAT...
NM_001316337.1:c.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT NP_001303266.1:n.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGA...
NM_004992.3:c.378-4_378-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT NP_004983.1:n.378-4_378-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGAT...
XM_005274681.3:c.378-4_378-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT XP_005274738.1:n.378-4_378-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTAT...
XM_005274682.3:c.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT XP_005274739.1:n.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGA...
XM_005274683.3:c.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT XP_005274740.1:n.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGA...
XM_006724819.2:c.-183-4_-183-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT XP_006724882.1:n.-183-4_-183-3insAGGAAATCTGGCCGCTCTGCTGGGAAGT...
XM_011531166.1:c.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT XP_011529468.1:n.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGA...
XM_006724819.3:c.-183-4_-183-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT XP_006724882.1:n.-183-4_-183-3insAGGAAATCTGGCCGCTCTGCTGGGAAGT...
XM_011531166.2:c.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT XP_011529468.1:n.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGA...
XM_024452383.1:c.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT XP_024308151.1:n.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGA...
XM_024452384.1:c.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT XP_024308152.1:n.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGA...
NM_001110792.2:c.414-4_414-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT MANE Select NP_001104262.1:n.414-4_414-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTAT...
NM_001316337.2:c.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT NP_001303266.1:n.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGA...
NM_001369391.2:c.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT NP_001356320.1:n.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGA...
NM_001369392.2:c.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT NP_001356321.1:n.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGA...
NM_001369393.2:c.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT NP_001356322.1:n.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGA...
NM_001369394.1:c.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT NP_001356323.1:n.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGA...
NM_001369394.2:c.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT NP_001356323.1:n.99-4_99-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGA...
NM_001386137.1:c.-183-4_-183-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT NP_001373066.1:n.-183-4_-183-3insAGGAAATCTGGCCGCTCTGCTGGGAAGT...
NM_001386138.1:c.-183-4_-183-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT NP_001373067.1:n.-183-4_-183-3insAGGAAATCTGGCCGCTCTGCTGGGAAGT...
NM_001386139.1:c.-183-4_-183-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT NP_001373068.1:n.-183-4_-183-3insAGGAAATCTGGCCGCTCTGCTGGGAAGT...
NM_004992.4:c.378-4_378-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGATGTGTATTTGAT MANE Plus Clinical NP_004983.1:n.378-4_378-3insAGGAAATCTGGCCGCTCTGCTGGGAAGTATGAT...