Canonical Allele Identifier: CA2466570151

Gene: MECP2

Linked Data

• dbSNP Id: rs2065904123
• gnomAD v4: X-154030487-TGCGGCCGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030493_154030501del , CM000685.2:g.154030493_154030501del	GRCh38
NC_000023.10:g.153295944_153295952del , CM000685.1:g.153295944_153295952del	GRCh37
NC_000023.9:g.152949138_152949146del	NCBI36
NG_007107.2:g.111632_111640del
NG_007107.3:g.111608_111616del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.1332_1340del MANE Plus Clinical	ENSP00000301948.6:p.Thr445_Ala447del
ENST00000453960.7:c.1368_1376del MANE Select	ENSP00000395535.2:p.Thr457_Ala459del
ENST00000303391.10:c.1332_1340del	ENSP00000301948.6:p.Thr445_Ala447del
ENST00000453960.6:c.1368_1376del	ENSP00000395535.2:p.Thr457_Ala459del
ENST00000619732.4:c.1332_1340del	ENSP00000480973.1:p.Thr445_Ala447del
ENST00000628176.2:c.*704_*712del	ENSP00000486978.1:n.*704_*712del
NM_001110792.1:c.1368_1376del	NP_001104262.1:p.Thr457_Ala459del
NM_001316337.1:c.1053_1061del	NP_001303266.1:p.Thr352_Ala354del
NM_004992.3:c.1332_1340del	NP_004983.1:p.Thr445_Ala447del
XM_005274681.3:c.1332_1340del	XP_005274738.1:p.Thr445_Ala447del
XM_005274682.3:c.1053_1061del	XP_005274739.1:p.Thr352_Ala354del
XM_005274683.3:c.1053_1061del	XP_005274740.1:p.Thr352_Ala354del
XM_006724819.2:c.663_671del	XP_006724882.1:p.Thr222_Ala224del
XM_011531166.1:c.1053_1061del	XP_011529468.1:p.Thr352_Ala354del
XM_006724819.3:c.663_671del	XP_006724882.1:p.Thr222_Ala224del
XM_011531166.2:c.1053_1061del	XP_011529468.1:p.Thr352_Ala354del
XM_024452383.1:c.1053_1061del	XP_024308151.1:p.Thr352_Ala354del
XM_024452384.1:c.1053_1061del	XP_024308152.1:p.Thr352_Ala354del
NM_001110792.2:c.1368_1376del MANE Select	NP_001104262.1:p.Thr457_Ala459del
NM_001316337.2:c.1053_1061del	NP_001303266.1:p.Thr352_Ala354del
NM_001369391.2:c.1053_1061del	NP_001356320.1:p.Thr352_Ala354del
NM_001369392.2:c.1053_1061del	NP_001356321.1:p.Thr352_Ala354del
NM_001369393.2:c.1053_1061del	NP_001356322.1:p.Thr352_Ala354del
NM_001369394.1:c.1053_1061del	NP_001356323.1:p.Thr352_Ala354del
NM_001369394.2:c.1053_1061del	NP_001356323.1:p.Thr352_Ala354del
NM_001386137.1:c.663_671del	NP_001373066.1:p.Thr222_Ala224del
NM_001386138.1:c.663_671del	NP_001373067.1:p.Thr222_Ala224del
NM_001386139.1:c.663_671del	NP_001373068.1:p.Thr222_Ala224del
NM_004992.4:c.1332_1340del MANE Plus Clinical	NP_004983.1:p.Thr445_Ala447del