Canonical Allele Identifier: CA2695099662

Gene: MECP2

Linked Data

• gnomAD v4: X-154030388-GGGCGTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030392_154030398del , CM000685.2:g.154030392_154030398del	GRCh38
NC_000023.10:g.153295843_153295849del , CM000685.1:g.153295843_153295849del	GRCh37
NC_000023.9:g.152949037_152949043del	NCBI36
NG_007107.2:g.111733_111739del
NG_007107.3:g.111709_111715del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.1433_1439del MANE Plus Clinical	ENSP00000301948.6:p.Arg478ProfsTer2
ENST00000453960.7:c.1469_1475del MANE Select	ENSP00000395535.2:p.Arg490ProfsTer2
ENST00000303391.10:c.1433_1439del	ENSP00000301948.6:p.Arg478ProfsTer2
ENST00000453960.6:c.1469_1475del	ENSP00000395535.2:p.Arg490ProfsTer2
ENST00000619732.4:c.1433_1439del	ENSP00000480973.1:p.Arg478ProfsTer2
ENST00000628176.2:c.*805_*811del	ENSP00000486978.1:n.*805_*811del
NM_001110792.1:c.1469_1475del	NP_001104262.1:p.Arg490ProfsTer2
NM_001316337.1:c.1154_1160del	NP_001303266.1:p.Arg385ProfsTer2
NM_004992.3:c.1433_1439del	NP_004983.1:p.Arg478ProfsTer2
XM_005274681.3:c.1433_1439del	XP_005274738.1:p.Arg478ProfsTer2
XM_005274682.3:c.1154_1160del	XP_005274739.1:p.Arg385ProfsTer2
XM_005274683.3:c.1154_1160del	XP_005274740.1:p.Arg385ProfsTer2
XM_006724819.2:c.764_770del	XP_006724882.1:p.Arg255ProfsTer2
XM_011531166.1:c.1154_1160del	XP_011529468.1:p.Arg385ProfsTer2
XM_006724819.3:c.764_770del	XP_006724882.1:p.Arg255ProfsTer2
XM_011531166.2:c.1154_1160del	XP_011529468.1:p.Arg385ProfsTer2
XM_024452383.1:c.1154_1160del	XP_024308151.1:p.Arg385ProfsTer2
XM_024452384.1:c.1154_1160del	XP_024308152.1:p.Arg385ProfsTer2
NM_001110792.2:c.1469_1475del MANE Select	NP_001104262.1:p.Arg490ProfsTer2
NM_001316337.2:c.1154_1160del	NP_001303266.1:p.Arg385ProfsTer2
NM_001369391.2:c.1154_1160del	NP_001356320.1:p.Arg385ProfsTer2
NM_001369392.2:c.1154_1160del	NP_001356321.1:p.Arg385ProfsTer2
NM_001369393.2:c.1154_1160del	NP_001356322.1:p.Arg385ProfsTer2
NM_001369394.1:c.1154_1160del	NP_001356323.1:p.Arg385ProfsTer2
NM_001369394.2:c.1154_1160del	NP_001356323.1:p.Arg385ProfsTer2
NM_001386137.1:c.764_770del	NP_001373066.1:p.Arg255ProfsTer2
NM_001386138.1:c.764_770del	NP_001373067.1:p.Arg255ProfsTer2
NM_001386139.1:c.764_770del	NP_001373068.1:p.Arg255ProfsTer2
NM_004992.4:c.1433_1439del MANE Plus Clinical	NP_004983.1:p.Arg478ProfsTer2