Canonical Allele Identifier: CA2466570816

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031111_154031126delinsGGCCCCACCCCCCTCA , CM000685.2:g.154031111_154031126delinsGGCCCCACCCCCCTCA	GRCh38
NC_000023.10:g.153296562_153296577delinsGGCCCCACCCCCCTCA , CM000685.1:g.153296562_153296577delinsGGCCCCACCCCCCTCA	GRCh37
NC_000023.9:g.152949756_152949771delinsGGCCCCACCCCCCTCA	NCBI36
NG_007107.2:g.111002_111017delinsTGAGGGGGGTGGGGCC
NG_007107.3:g.110978_110993delinsTGAGGGGGGTGGGGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.702_717delinsTGAGGGGGGTGGGGCC MANE Plus Clinical	ENSP00000301948.6:p.Ala234=
ENST00000453960.7:c.738_753delinsTGAGGGGGGTGGGGCC MANE Select	ENSP00000395535.2:p.Ala246=
ENST00000637917.1:c.66-190_66-175delinsTGAGGGGGGTGGGGCC
ENST00000303391.10:c.702_717delinsTGAGGGGGGTGGGGCC	ENSP00000301948.6:p.Ala234=
ENST00000407218.5:c.*74_*89delinsTGAGGGGGGTGGGGCC	ENSP00000384865.2:n.*74_*89delinsTGAGGGGG...
ENST00000453960.6:c.738_753delinsTGAGGGGGGTGGGGCC	ENSP00000395535.2:p.Ala246=
ENST00000619732.4:c.702_717delinsTGAGGGGGGTGGGGCC	ENSP00000480973.1:p.Ala234=
ENST00000622433.4:c.690_705delinsTGAGGGGGGTGGGGCC	ENSP00000484470.1:p.Ala230=
ENST00000628176.2:c.*74_*89delinsTGAGGGGGGTGGGGCC	ENSP00000486978.1:n.*74_*89delinsTGAGGGGG...
NM_001110792.1:c.738_753delinsTGAGGGGGGTGGGGCC	NP_001104262.1:p.Ala246=
NM_001316337.1:c.423_438delinsTGAGGGGGGTGGGGCC	NP_001303266.1:p.Ala141=
NM_004992.3:c.702_717delinsTGAGGGGGGTGGGGCC	NP_004983.1:p.Ala234=
XM_005274681.3:c.702_717delinsTGAGGGGGGTGGGGCC	XP_005274738.1:p.Ala234=
XM_005274682.3:c.423_438delinsTGAGGGGGGTGGGGCC	XP_005274739.1:p.Ala141=
XM_005274683.3:c.423_438delinsTGAGGGGGGTGGGGCC	XP_005274740.1:p.Ala141=
XM_006724819.2:c.33_48delinsTGAGGGGGGTGGGGCC	XP_006724882.1:p.Ala11=
XM_011531166.1:c.423_438delinsTGAGGGGGGTGGGGCC	XP_011529468.1:p.Ala141=
XM_006724819.3:c.33_48delinsTGAGGGGGGTGGGGCC	XP_006724882.1:p.Ala11=
XM_011531166.2:c.423_438delinsTGAGGGGGGTGGGGCC	XP_011529468.1:p.Ala141=
XM_024452383.1:c.423_438delinsTGAGGGGGGTGGGGCC	XP_024308151.1:p.Ala141=
XM_024452384.1:c.423_438delinsTGAGGGGGGTGGGGCC	XP_024308152.1:p.Ala141=
NM_001110792.2:c.738_753delinsTGAGGGGGGTGGGGCC MANE Select	NP_001104262.1:p.Ala246=
NM_001316337.2:c.423_438delinsTGAGGGGGGTGGGGCC	NP_001303266.1:p.Ala141=
NM_001369391.2:c.423_438delinsTGAGGGGGGTGGGGCC	NP_001356320.1:p.Ala141=
NM_001369392.2:c.423_438delinsTGAGGGGGGTGGGGCC	NP_001356321.1:p.Ala141=
NM_001369393.2:c.423_438delinsTGAGGGGGGTGGGGCC	NP_001356322.1:p.Ala141=
NM_001369394.1:c.423_438delinsTGAGGGGGGTGGGGCC	NP_001356323.1:p.Ala141=
NM_001369394.2:c.423_438delinsTGAGGGGGGTGGGGCC	NP_001356323.1:p.Ala141=
NM_001386137.1:c.33_48delinsTGAGGGGGGTGGGGCC	NP_001373066.1:p.Ala11=
NM_001386138.1:c.33_48delinsTGAGGGGGGTGGGGCC	NP_001373067.1:p.Ala11=
NM_001386139.1:c.33_48delinsTGAGGGGGGTGGGGCC	NP_001373068.1:p.Ala11=
NM_004992.4:c.702_717delinsTGAGGGGGGTGGGGCC MANE Plus Clinical	NP_004983.1:p.Ala234=