Canonical Allele Identifier: CA2697544872

Gene: MECP2

Linked Data

• ClinVar Variation Id: 2766523
• ClinVar RCV Id: RCV003522674

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031200_154031254del , CM000685.2:g.154031200_154031254del	GRCh38
NC_000023.10:g.153296651_153296705del , CM000685.1:g.153296651_153296705del	GRCh37
NC_000023.9:g.152949845_152949899del	NCBI36
NG_007107.2:g.110880_110934del
NG_007107.3:g.110856_110910del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.580_634del MANE Plus Clinical	ENSP00000301948.6:p.Gly195TrpfsTer?
ENST00000453960.7:c.616_670del MANE Select	ENSP00000395535.2:p.Gly207TrpfsTer?
ENST00000637917.1:c.65+148_65+202del
ENST00000303391.10:c.580_634del	ENSP00000301948.6:p.Gly195TrpfsTer?
ENST00000407218.5:c.507_*6del	ENSP00000384865.2:n.[c.507_*6del;Ala170Pr...
ENST00000453960.6:c.616_670del	ENSP00000395535.2:p.Gly207TrpfsTer?
ENST00000619732.4:c.580_634del	ENSP00000480973.1:p.Gly195TrpfsTer?
ENST00000622433.4:c.568_622del	ENSP00000484470.1:p.Gly191TrpfsTer?
ENST00000628176.2:c.471_*6del	ENSP00000486978.1:n.[c.471_*6del;Ala158Pr...
NM_001110792.1:c.616_670del	NP_001104262.1:p.Gly207TrpfsTer?
NM_001316337.1:c.301_355del	NP_001303266.1:p.Gly102TrpfsTer?
NM_004992.3:c.580_634del	NP_004983.1:p.Gly195TrpfsTer?
XM_005274681.3:c.580_634del	XP_005274738.1:p.Gly195TrpfsTer?
XM_005274682.3:c.301_355del	XP_005274739.1:p.Gly102TrpfsTer?
XM_005274683.3:c.301_355del	XP_005274740.1:p.Gly102TrpfsTer?
XM_006724819.2:c.-90_-36del	XP_006724882.1:n.-90_-36del
XM_011531166.1:c.301_355del	XP_011529468.1:p.Gly102TrpfsTer?
XM_006724819.3:c.-90_-36del	XP_006724882.1:n.-90_-36del
XM_011531166.2:c.301_355del	XP_011529468.1:p.Gly102TrpfsTer?
XM_024452383.1:c.301_355del	XP_024308151.1:p.Gly102TrpfsTer?
XM_024452384.1:c.301_355del	XP_024308152.1:p.Gly102TrpfsTer?
NM_001110792.2:c.616_670del MANE Select	NP_001104262.1:p.Gly207TrpfsTer?
NM_001316337.2:c.301_355del	NP_001303266.1:p.Gly102TrpfsTer?
NM_001369391.2:c.301_355del	NP_001356320.1:p.Gly102TrpfsTer?
NM_001369392.2:c.301_355del	NP_001356321.1:p.Gly102TrpfsTer?
NM_001369393.2:c.301_355del	NP_001356322.1:p.Gly102TrpfsTer?
NM_001369394.1:c.301_355del	NP_001356323.1:p.Gly102TrpfsTer?
NM_001369394.2:c.301_355del	NP_001356323.1:p.Gly102TrpfsTer?
NM_001386137.1:c.-90_-36del	NP_001373066.1:n.-90_-36del
NM_001386138.1:c.-90_-36del	NP_001373067.1:n.-90_-36del
NM_001386139.1:c.-90_-36del	NP_001373068.1:n.-90_-36del
NM_004992.4:c.580_634del MANE Plus Clinical	NP_004983.1:p.Gly195TrpfsTer?