Canonical Allele Identifier: CA2579736943

Gene: MECP2

Linked Data

• gnomAD v4: X-154097714-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097715del , CM000685.2:g.154097715del	GRCh38
NC_000023.10:g.153363172del , CM000685.1:g.153363172del	GRCh37
NC_000023.9:g.153016366del	NCBI36
NG_007107.2:g.44407del
NG_007107.3:g.44389del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-210del MANE Plus Clinical	ENSP00000301948.6:n.-210del
ENST00000453960.7:c.-50del MANE Select	ENSP00000395535.2:n.-50del
ENST00000303391.10:c.-210del	ENSP00000301948.6:n.-210del
ENST00000453960.6:c.-50del	ENSP00000395535.2:n.-50del
ENST00000619732.4:c.-210del	ENSP00000480973.1:n.-210del
ENST00000628176.2:c.-210del	ENSP00000486978.1:n.-210del
ENST00000631210.1:n.305+7066del
NM_001110792.1:c.-50del	NP_001104262.1:n.-50del
NM_001316337.1:c.-657del	NP_001303266.1:n.-657del
NM_004992.3:c.-210del	NP_004983.1:n.-210del
NM_001110792.2:c.-50del MANE Select	NP_001104262.1:n.-50del
NM_001316337.2:c.-657del	NP_001303266.1:n.-657del
NM_001369391.2:c.-952del	NP_001356320.1:n.-952del
NM_001369392.2:c.-601del	NP_001356321.1:n.-601del
NM_001369393.2:c.-477del	NP_001356322.1:n.-477del
NM_001386137.1:c.-882del	NP_001373066.1:n.-882del
NM_001386138.1:c.-770del	NP_001373067.1:n.-770del
NM_001386139.1:c.-646del	NP_001373068.1:n.-646del
NM_004992.4:c.-210del MANE Plus Clinical	NP_004983.1:n.-210del