Canonical Allele Identifier: CA270258

Gene: MECP2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030635_154030668del , CM000685.2:g.154030635_154030668del	GRCh38
NC_000023.10:g.153296086_153296119del , CM000685.1:g.153296086_153296119del	GRCh37
NC_000023.9:g.152949280_152949313del	NCBI36
NG_007107.2:g.111467_111500del
NG_007107.3:g.111443_111476del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.1167_1200del MANE Plus Clinical	ENSP00000301948.6:p.Pro390AlafsTer8
ENST00000453960.7:c.1203_1236del MANE Select	ENSP00000395535.2:p.Pro402AlafsTer8
ENST00000303391.10:c.1167_1200del	ENSP00000301948.6:p.Pro390AlafsTer8
ENST00000407218.5:c.*539_*572del	ENSP00000384865.2:n.*539_*572del
ENST00000453960.6:c.1203_1236del	ENSP00000395535.2:p.Pro402AlafsTer8
ENST00000619732.4:c.1167_1200del	ENSP00000480973.1:p.Pro390AlafsTer8
ENST00000628176.2:c.*539_*572del	ENSP00000486978.1:n.*539_*572del
NM_001110792.1:c.1203_1236del	NP_001104262.1:p.Pro402AlafsTer8
NM_001316337.1:c.888_921del	NP_001303266.1:p.Pro297AlafsTer8
NM_004992.3:c.1167_1200del	NP_004983.1:p.Pro390AlafsTer8
XM_005274681.3:c.1167_1200del	XP_005274738.1:p.Pro390AlafsTer8
XM_005274682.3:c.888_921del	XP_005274739.1:p.Pro297AlafsTer8
XM_005274683.3:c.888_921del	XP_005274740.1:p.Pro297AlafsTer8
XM_006724819.2:c.498_531del	XP_006724882.1:p.Pro167AlafsTer8
XM_011531166.1:c.888_921del	XP_011529468.1:p.Pro297AlafsTer8
XM_006724819.3:c.498_531del	XP_006724882.1:p.Pro167AlafsTer8
XM_011531166.2:c.888_921del	XP_011529468.1:p.Pro297AlafsTer8
XM_024452383.1:c.888_921del	XP_024308151.1:p.Pro297AlafsTer8
XM_024452384.1:c.888_921del	XP_024308152.1:p.Pro297AlafsTer8
NM_001110792.2:c.1203_1236del MANE Select	NP_001104262.1:p.Pro402AlafsTer8
NM_001316337.2:c.888_921del	NP_001303266.1:p.Pro297AlafsTer8
NM_001369391.2:c.888_921del	NP_001356320.1:p.Pro297AlafsTer8
NM_001369392.2:c.888_921del	NP_001356321.1:p.Pro297AlafsTer8
NM_001369393.2:c.888_921del	NP_001356322.1:p.Pro297AlafsTer8
NM_001369394.1:c.888_921del	NP_001356323.1:p.Pro297AlafsTer8
NM_001369394.2:c.888_921del	NP_001356323.1:p.Pro297AlafsTer8
NM_001386137.1:c.498_531del	NP_001373066.1:p.Pro167AlafsTer8
NM_001386138.1:c.498_531del	NP_001373067.1:p.Pro167AlafsTer8
NM_001386139.1:c.498_531del	NP_001373068.1:p.Pro167AlafsTer8
NM_004992.4:c.1167_1200del MANE Plus Clinical	NP_004983.1:p.Pro390AlafsTer8