Canonical Allele Identifier: CA2466570817

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031112_154031120delinsGCCCCACCC , CM000685.2:g.154031112_154031120delinsGCCCCACCC	GRCh38
NC_000023.10:g.153296563_153296571delinsGCCCCACCC , CM000685.1:g.153296563_153296571delinsGCCCCACCC	GRCh37
NC_000023.9:g.152949757_152949765delinsGCCCCACCC	NCBI36
NG_007107.2:g.111008_111016delinsGGGTGGGGC
NG_007107.3:g.110984_110992delinsGGGTGGGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.708_716delinsGGGTGGGGC MANE Plus Clinical	ENSP00000301948.6:p.Gly236=
ENST00000453960.7:c.744_752delinsGGGTGGGGC MANE Select	ENSP00000395535.2:p.Gly248=
ENST00000637917.1:c.66-184_66-176delinsGGGTGGGGC
ENST00000303391.10:c.708_716delinsGGGTGGGGC	ENSP00000301948.6:p.Gly236=
ENST00000407218.5:c.*80_*88delinsGGGTGGGGC	ENSP00000384865.2:n.*80_*88delinsGGGTGGGG...
ENST00000453960.6:c.744_752delinsGGGTGGGGC	ENSP00000395535.2:p.Gly248=
ENST00000619732.4:c.708_716delinsGGGTGGGGC	ENSP00000480973.1:p.Gly236=
ENST00000622433.4:c.696_704delinsGGGTGGGGC	ENSP00000484470.1:p.Gly232=
ENST00000628176.2:c.*80_*88delinsGGGTGGGGC	ENSP00000486978.1:n.*80_*88delinsGGGTGGGG...
NM_001110792.1:c.744_752delinsGGGTGGGGC	NP_001104262.1:p.Gly248=
NM_001316337.1:c.429_437delinsGGGTGGGGC	NP_001303266.1:p.Gly143=
NM_004992.3:c.708_716delinsGGGTGGGGC	NP_004983.1:p.Gly236=
XM_005274681.3:c.708_716delinsGGGTGGGGC	XP_005274738.1:p.Gly236=
XM_005274682.3:c.429_437delinsGGGTGGGGC	XP_005274739.1:p.Gly143=
XM_005274683.3:c.429_437delinsGGGTGGGGC	XP_005274740.1:p.Gly143=
XM_006724819.2:c.39_47delinsGGGTGGGGC	XP_006724882.1:p.Gly13=
XM_011531166.1:c.429_437delinsGGGTGGGGC	XP_011529468.1:p.Gly143=
XM_006724819.3:c.39_47delinsGGGTGGGGC	XP_006724882.1:p.Gly13=
XM_011531166.2:c.429_437delinsGGGTGGGGC	XP_011529468.1:p.Gly143=
XM_024452383.1:c.429_437delinsGGGTGGGGC	XP_024308151.1:p.Gly143=
XM_024452384.1:c.429_437delinsGGGTGGGGC	XP_024308152.1:p.Gly143=
NM_001110792.2:c.744_752delinsGGGTGGGGC MANE Select	NP_001104262.1:p.Gly248=
NM_001316337.2:c.429_437delinsGGGTGGGGC	NP_001303266.1:p.Gly143=
NM_001369391.2:c.429_437delinsGGGTGGGGC	NP_001356320.1:p.Gly143=
NM_001369392.2:c.429_437delinsGGGTGGGGC	NP_001356321.1:p.Gly143=
NM_001369393.2:c.429_437delinsGGGTGGGGC	NP_001356322.1:p.Gly143=
NM_001369394.1:c.429_437delinsGGGTGGGGC	NP_001356323.1:p.Gly143=
NM_001369394.2:c.429_437delinsGGGTGGGGC	NP_001356323.1:p.Gly143=
NM_001386137.1:c.39_47delinsGGGTGGGGC	NP_001373066.1:p.Gly13=
NM_001386138.1:c.39_47delinsGGGTGGGGC	NP_001373067.1:p.Gly13=
NM_001386139.1:c.39_47delinsGGGTGGGGC	NP_001373068.1:p.Gly13=
NM_004992.4:c.708_716delinsGGGTGGGGC MANE Plus Clinical	NP_004983.1:p.Gly236=