Canonical Allele Identifier: CA2466570983

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031347_154031348delinsCA , CM000685.2:g.154031347_154031348delinsCA	GRCh38
NC_000023.10:g.153296798_153296799delinsCA , CM000685.1:g.153296798_153296799delinsCA	GRCh37
NC_000023.9:g.152949992_152949993delinsCA	NCBI36
NG_007107.2:g.110780_110781delinsTG
NG_007107.3:g.110756_110757delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.480_481delinsTG MANE Plus Clinical	ENSP00000301948.6:p.Thr160=
ENST00000453960.7:c.516_517delinsTG MANE Select	ENSP00000395535.2:p.Thr172=
ENST00000637917.1:c.65+48_65+49delinsTG
ENST00000303391.10:c.480_481delinsTG	ENSP00000301948.6:p.Thr160=
ENST00000407218.5:c.468+48_468+49delinsTG	ENSP00000384865.2:n.468+48_468+49delinsTG...
ENST00000453960.6:c.516_517delinsTG	ENSP00000395535.2:p.Thr172=
ENST00000486506.5:n.2828_2829delinsTG
ENST00000611468.1:c.468_469delinsTG	ENSP00000479736.1:p.Thr156=
ENST00000619732.4:c.480_481delinsTG	ENSP00000480973.1:p.Thr160=
ENST00000622433.4:c.468_469delinsTG	ENSP00000484470.1:p.Thr156=
ENST00000628176.2:c.432+48_432+49delinsTG	ENSP00000486978.1:n.432+48_432+49delinsTG...
NM_001110792.1:c.516_517delinsTG	NP_001104262.1:p.Thr172=
NM_001316337.1:c.201_202delinsTG	NP_001303266.1:p.Thr67=
NM_004992.3:c.480_481delinsTG	NP_004983.1:p.Thr160=
XM_005274681.3:c.480_481delinsTG	XP_005274738.1:p.Thr160=
XM_005274682.3:c.201_202delinsTG	XP_005274739.1:p.Thr67=
XM_005274683.3:c.201_202delinsTG	XP_005274740.1:p.Thr67=
XM_006724819.2:c.-129+48_-129+49delinsTG	XP_006724882.1:n.-129+48_-129+49delinsTG
XM_011531166.1:c.201_202delinsTG	XP_011529468.1:p.Thr67=
XM_006724819.3:c.-129+48_-129+49delinsTG	XP_006724882.1:n.-129+48_-129+49delinsTG
XM_011531166.2:c.201_202delinsTG	XP_011529468.1:p.Thr67=
XM_024452383.1:c.201_202delinsTG	XP_024308151.1:p.Thr67=
XM_024452384.1:c.201_202delinsTG	XP_024308152.1:p.Thr67=
NM_001110792.2:c.516_517delinsTG MANE Select	NP_001104262.1:p.Thr172=
NM_001316337.2:c.201_202delinsTG	NP_001303266.1:p.Thr67=
NM_001369391.2:c.201_202delinsTG	NP_001356320.1:p.Thr67=
NM_001369392.2:c.201_202delinsTG	NP_001356321.1:p.Thr67=
NM_001369393.2:c.201_202delinsTG	NP_001356322.1:p.Thr67=
NM_001369394.1:c.201_202delinsTG	NP_001356323.1:p.Thr67=
NM_001369394.2:c.201_202delinsTG	NP_001356323.1:p.Thr67=
NM_001386137.1:c.-129+48_-129+49delinsTG	NP_001373066.1:n.-129+48_-129+49delinsTG
NM_001386138.1:c.-129+48_-129+49delinsTG	NP_001373067.1:n.-129+48_-129+49delinsTG
NM_001386139.1:c.-129+48_-129+49delinsTG	NP_001373068.1:n.-129+48_-129+49delinsTG
NM_004992.4:c.480_481delinsTG MANE Plus Clinical	NP_004983.1:p.Thr160=