Canonical Allele Identifier: CA2580612305
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2433687
ClinVar RCV Id: RCV003132619
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030412_154030414dup , CM000685.2:g.154030412_154030414dup GRCh38
NC_000023.10:g.153295863_153295865dup , CM000685.1:g.153295863_153295865dup GRCh37
NC_000023.9:g.152949057_152949059dup NCBI36
NG_007107.2:g.111717_111719dup
NG_007107.3:g.111693_111695dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.1417_1419dup MANE Plus Clinical ENSP00000301948.6:p.Glu473_Pro474insGlu
ENST00000453960.7:c.1453_1455dup MANE Select ENSP00000395535.2:p.Glu485_Pro486insGlu
ENST00000303391.10:c.1417_1419dup ENSP00000301948.6:p.Glu473_Pro474insGlu
ENST00000453960.6:c.1453_1455dup ENSP00000395535.2:p.Glu485_Pro486insGlu
ENST00000619732.4:c.1417_1419dup ENSP00000480973.1:p.Glu473_Pro474insGlu
ENST00000628176.2:c.*789_*791dup ENSP00000486978.1:n.*789_*791dup
NM_001110792.1:c.1453_1455dup NP_001104262.1:p.Glu485_Pro486insGlu
NM_001316337.1:c.1138_1140dup NP_001303266.1:p.Glu380_Pro381insGlu
NM_004992.3:c.1417_1419dup NP_004983.1:p.Glu473_Pro474insGlu
XM_005274681.3:c.1417_1419dup XP_005274738.1:p.Glu473_Pro474insGlu
XM_005274682.3:c.1138_1140dup XP_005274739.1:p.Glu380_Pro381insGlu
XM_005274683.3:c.1138_1140dup XP_005274740.1:p.Glu380_Pro381insGlu
XM_006724819.2:c.748_750dup XP_006724882.1:p.Glu250_Pro251insGlu
XM_011531166.1:c.1138_1140dup XP_011529468.1:p.Glu380_Pro381insGlu
XM_006724819.3:c.748_750dup XP_006724882.1:p.Glu250_Pro251insGlu
XM_011531166.2:c.1138_1140dup XP_011529468.1:p.Glu380_Pro381insGlu
XM_024452383.1:c.1138_1140dup XP_024308151.1:p.Glu380_Pro381insGlu
XM_024452384.1:c.1138_1140dup XP_024308152.1:p.Glu380_Pro381insGlu
NM_001110792.2:c.1453_1455dup MANE Select NP_001104262.1:p.Glu485_Pro486insGlu
NM_001316337.2:c.1138_1140dup NP_001303266.1:p.Glu380_Pro381insGlu
NM_001369391.2:c.1138_1140dup NP_001356320.1:p.Glu380_Pro381insGlu
NM_001369392.2:c.1138_1140dup NP_001356321.1:p.Glu380_Pro381insGlu
NM_001369393.2:c.1138_1140dup NP_001356322.1:p.Glu380_Pro381insGlu
NM_001369394.1:c.1138_1140dup NP_001356323.1:p.Glu380_Pro381insGlu
NM_001369394.2:c.1138_1140dup NP_001356323.1:p.Glu380_Pro381insGlu
NM_001386137.1:c.748_750dup NP_001373066.1:p.Glu250_Pro251insGlu
NM_001386138.1:c.748_750dup NP_001373067.1:p.Glu250_Pro251insGlu
NM_001386139.1:c.748_750dup NP_001373068.1:p.Glu250_Pro251insGlu
NM_004992.4:c.1417_1419dup MANE Plus Clinical NP_004983.1:p.Glu473_Pro474insGlu
Search 100 bp 5'
Search 100 bp 3'