Canonical Allele Identifier: CA2580101844

Gene: MECP2

Linked Data

• ClinVar Variation Id: 2018765
• ClinVar RCV Id: RCV002870897

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030293_154030599del , CM000685.2:g.154030293_154030599del	GRCh38
NC_000023.10:g.153295744_153296050del , CM000685.1:g.153295744_153296050del	GRCh37
NC_000023.9:g.152948938_152949244del	NCBI36
NG_007107.2:g.111531_111837del
NG_007107.3:g.111507_111813del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.1231_*76del MANE Plus Clinical	ENSP00000301948.6:n.[c.1231_*76del;Val412...
ENST00000453960.7:c.1267_*76del MANE Select	ENSP00000395535.2:n.[c.1267_*76del;Val424...
ENST00000303391.10:c.1231_*76del	ENSP00000301948.6:n.[c.1231_*76del;Val412...
ENST00000453960.6:c.1267_*76del	ENSP00000395535.2:n.[c.1267_*76del;Val424...
ENST00000619732.4:c.1231_*3del
ENST00000628176.2:c.*603_*909del	ENSP00000486978.1:n.*603_*909del
NM_001110792.1:c.1267_*76del	NP_001104262.1:n.[c.1267_*76del;Val424Asp...
NM_001316337.1:c.952_*76del	NP_001303266.1:n.[c.952_*76del;Val319Aspf...
NM_004992.3:c.1231_*76del	NP_004983.1:n.[c.1231_*76del;Val412AspfsT...
XM_005274681.3:c.1231_*76del	XP_005274738.1:n.[c.1231_*76del;Val412Asp...
XM_005274682.3:c.952_*76del	XP_005274739.1:n.[c.952_*76del;Val319Aspf...
XM_005274683.3:c.952_*76del	XP_005274740.1:n.[c.952_*76del;Val319Aspf...
XM_006724819.2:c.562_*76del	XP_006724882.1:n.[c.562_*76del;Val189Aspf...
XM_011531166.1:c.952_*76del	XP_011529468.1:n.[c.952_*76del;Val319Aspf...
XM_006724819.3:c.562_*76del	XP_006724882.1:n.[c.562_*76del;Val189Aspf...
XM_011531166.2:c.952_*76del	XP_011529468.1:n.[c.952_*76del;Val319Aspf...
XM_024452383.1:c.952_*76del	XP_024308151.1:n.[c.952_*76del;Val319Aspf...
XM_024452384.1:c.952_*76del	XP_024308152.1:n.[c.952_*76del;Val319Aspf...
NM_001110792.2:c.1267_*76del MANE Select	NP_001104262.1:n.[c.1267_*76del;Val424Asp...
NM_001316337.2:c.952_*76del	NP_001303266.1:n.[c.952_*76del;Val319Aspf...
NM_001369391.2:c.952_*76del	NP_001356320.1:n.[c.952_*76del;Val319Aspf...
NM_001369392.2:c.952_*76del	NP_001356321.1:n.[c.952_*76del;Val319Aspf...
NM_001369393.2:c.952_*76del	NP_001356322.1:n.[c.952_*76del;Val319Aspf...
NM_001369394.1:c.952_*76del	NP_001356323.1:n.[c.952_*76del;Val319Aspf...
NM_001369394.2:c.952_*76del	NP_001356323.1:n.[c.952_*76del;Val319Aspf...
NM_001386137.1:c.562_*76del	NP_001373066.1:n.[c.562_*76del;Val189Aspf...
NM_001386138.1:c.562_*76del	NP_001373067.1:n.[c.562_*76del;Val189Aspf...
NM_001386139.1:c.562_*76del	NP_001373068.1:n.[c.562_*76del;Val189Aspf...
NM_004992.4:c.1231_*76del MANE Plus Clinical	NP_004983.1:n.[c.1231_*76del;Val412AspfsT...