Canonical Allele Identifier: CA2573159363

Gene: MECP2

Linked Data

• ClinVar Variation Id: 1691387
• ClinVar RCV Id: RCV002254485
• dbSNP Id: rs2148659968

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030638_154031249del , CM000685.2:g.154030638_154031249del	GRCh38
NC_000023.10:g.153296089_153296700del , CM000685.1:g.153296089_153296700del	GRCh37
NC_000023.9:g.152949283_152949894del	NCBI36
NG_007107.2:g.110880_111491del
NG_007107.3:g.110856_111467del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.580_1191del MANE Plus Clinical	ENSP00000301948.6:p.Ser194_Glu397del
ENST00000453960.7:c.616_1227del MANE Select	ENSP00000395535.2:p.Ser206_Glu409del
ENST00000303391.10:c.580_1191del	ENSP00000301948.6:p.Ser194_Glu397del
ENST00000407218.5:c.507_*563del	ENSP00000384865.2:n.[c.507_*563del;Ala170...
ENST00000453960.6:c.616_1227del	ENSP00000395535.2:p.Ser206_Glu409del
ENST00000619732.4:c.580_1191del	ENSP00000480973.1:p.Ser194_Glu397del
ENST00000628176.2:c.471_*563del	ENSP00000486978.1:n.[c.471_*563del;Ala158...
NM_001110792.1:c.616_1227del	NP_001104262.1:p.Ser206_Glu409del
NM_001316337.1:c.301_912del	NP_001303266.1:p.Ser101_Glu304del
NM_004992.3:c.580_1191del	NP_004983.1:p.Ser194_Glu397del
XM_005274681.3:c.580_1191del	XP_005274738.1:p.Ser194_Glu397del
XM_005274682.3:c.301_912del	XP_005274739.1:p.Ser101_Glu304del
XM_005274683.3:c.301_912del	XP_005274740.1:p.Ser101_Glu304del
XM_006724819.2:c.-90_522del
XM_011531166.1:c.301_912del	XP_011529468.1:p.Ser101_Glu304del
XM_006724819.3:c.-90_522del
XM_011531166.2:c.301_912del	XP_011529468.1:p.Ser101_Glu304del
XM_024452383.1:c.301_912del	XP_024308151.1:p.Ser101_Glu304del
XM_024452384.1:c.301_912del	XP_024308152.1:p.Ser101_Glu304del
NM_001110792.2:c.616_1227del MANE Select	NP_001104262.1:p.Ser206_Glu409del
NM_001316337.2:c.301_912del	NP_001303266.1:p.Ser101_Glu304del
NM_001369391.2:c.301_912del	NP_001356320.1:p.Ser101_Glu304del
NM_001369392.2:c.301_912del	NP_001356321.1:p.Ser101_Glu304del
NM_001369393.2:c.301_912del	NP_001356322.1:p.Ser101_Glu304del
NM_001369394.1:c.301_912del	NP_001356323.1:p.Ser101_Glu304del
NM_001369394.2:c.301_912del	NP_001356323.1:p.Ser101_Glu304del
NM_001386137.1:c.-90_522del
NM_001386138.1:c.-90_522del
NM_001386139.1:c.-90_522del
NM_004992.4:c.580_1191del MANE Plus Clinical	NP_004983.1:p.Ser194_Glu397del