Canonical Allele Identifier: CA916084014
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 837591
ClinVar RCV Id: RCV001038963

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154029504_154030589del , CM000685.2:g.154029504_154030589del GRCh38
NC_000023.10:g.153294955_153296040del , CM000685.1:g.153294955_153296040del GRCh37
NC_000023.9:g.152948149_152949234del NCBI36
NG_007107.2:g.111539_112624del
NG_007107.3:g.111515_112600del

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.1239_*863del MANE Plus Clinical ENSP00000301948.6:n.[c.1239_*863del;Lys41...
ENST00000453960.7:c.1275_*863del MANE Select ENSP00000395535.2:n.[c.1275_*863del;Lys42...
ENST00000303391.10:c.1239_*863del ENSP00000301948.6:n.[c.1239_*863del;Lys41...
ENST00000619732.4:c.1239_*790del
NM_004992.3:c.1239_*863del NP_004983.1:n.[c.1239_*863del;Lys414Hisfs...
XM_005274681.3:c.1239_*863del XP_005274738.1:n.[c.1239_*863del;Lys414Hi...
XM_005274682.3:c.960_*863del XP_005274739.1:n.[c.960_*863del;Lys321His...
XM_005274683.3:c.960_*863del XP_005274740.1:n.[c.960_*863del;Lys321His...
XM_006724819.2:c.570_*863del XP_006724882.1:n.[c.570_*863del;Lys191His...
XM_011531166.1:c.960_*863del XP_011529468.1:n.[c.960_*863del;Lys321His...
XM_006724819.3:c.570_*863del XP_006724882.1:n.[c.570_*863del;Lys191His...
XM_011531166.2:c.960_*863del XP_011529468.1:n.[c.960_*863del;Lys321His...
XM_024452383.1:c.960_*863del XP_024308151.1:n.[c.960_*863del;Lys321His...
XM_024452384.1:c.960_*863del XP_024308152.1:n.[c.960_*863del;Lys321His...
NM_001110792.2:c.1275_*863del MANE Select NP_001104262.1:n.[c.1275_*863del;Lys426Hi...
NM_001316337.2:c.960_*863del NP_001303266.1:n.[c.960_*863del;Lys321His...
NM_001369391.2:c.960_*863del NP_001356320.1:n.[c.960_*863del;Lys321His...
NM_001369392.2:c.960_*863del NP_001356321.1:n.[c.960_*863del;Lys321His...
NM_001369393.2:c.960_*863del NP_001356322.1:n.[c.960_*863del;Lys321His...
NM_001369394.2:c.960_*863del NP_001356323.1:n.[c.960_*863del;Lys321His...
NM_001386137.1:c.570_*863del NP_001373066.1:n.[c.570_*863del;Lys191His...
NM_001386138.1:c.570_*863del NP_001373067.1:n.[c.570_*863del;Lys191His...
NM_001386139.1:c.570_*863del NP_001373068.1:n.[c.570_*863del;Lys191His...
NM_004992.4:c.1239_*863del MANE Plus Clinical NP_004983.1:n.[c.1239_*863del;Lys414Hisfs...