Canonical Allele Identifier: CA2466570937

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031283_154031285delinsGGA , CM000685.2:g.154031283_154031285delinsGGA	GRCh38
NC_000023.10:g.153296734_153296736delinsGGA , CM000685.1:g.153296734_153296736delinsGGA	GRCh37
NC_000023.9:g.152949928_152949930delinsGGA	NCBI36
NG_007107.2:g.110843_110845delinsTCC
NG_007107.3:g.110819_110821delinsTCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.543_545delinsTCC MANE Plus Clinical	ENSP00000301948.6:p.Ala181=
ENST00000453960.7:c.579_581delinsTCC MANE Select	ENSP00000395535.2:p.Ala193=
ENST00000637917.1:c.65+111_65+113delinsTCC
ENST00000303391.10:c.543_545delinsTCC	ENSP00000301948.6:p.Ala181=
ENST00000407218.5:c.470_472delinsTCC	ENSP00000384865.2:p.Leu157=
ENST00000453960.6:c.579_581delinsTCC	ENSP00000395535.2:p.Ala193=
ENST00000486506.5:n.2891_2893delinsTCC
ENST00000619732.4:c.543_545delinsTCC	ENSP00000480973.1:p.Ala181=
ENST00000622433.4:c.531_533delinsTCC	ENSP00000484470.1:p.Ala177=
ENST00000628176.2:c.434_436delinsTCC	ENSP00000486978.1:p.Leu145=
NM_001110792.1:c.579_581delinsTCC	NP_001104262.1:p.Ala193=
NM_001316337.1:c.264_266delinsTCC	NP_001303266.1:p.Ala88=
NM_004992.3:c.543_545delinsTCC	NP_004983.1:p.Ala181=
XM_005274681.3:c.543_545delinsTCC	XP_005274738.1:p.Ala181=
XM_005274682.3:c.264_266delinsTCC	XP_005274739.1:p.Ala88=
XM_005274683.3:c.264_266delinsTCC	XP_005274740.1:p.Ala88=
XM_006724819.2:c.-127_-125delinsTCC	XP_006724882.1:n.-127_-125delinsTCC
XM_011531166.1:c.264_266delinsTCC	XP_011529468.1:p.Ala88=
XM_006724819.3:c.-127_-125delinsTCC	XP_006724882.1:n.-127_-125delinsTCC
XM_011531166.2:c.264_266delinsTCC	XP_011529468.1:p.Ala88=
XM_024452383.1:c.264_266delinsTCC	XP_024308151.1:p.Ala88=
XM_024452384.1:c.264_266delinsTCC	XP_024308152.1:p.Ala88=
NM_001110792.2:c.579_581delinsTCC MANE Select	NP_001104262.1:p.Ala193=
NM_001316337.2:c.264_266delinsTCC	NP_001303266.1:p.Ala88=
NM_001369391.2:c.264_266delinsTCC	NP_001356320.1:p.Ala88=
NM_001369392.2:c.264_266delinsTCC	NP_001356321.1:p.Ala88=
NM_001369393.2:c.264_266delinsTCC	NP_001356322.1:p.Ala88=
NM_001369394.1:c.264_266delinsTCC	NP_001356323.1:p.Ala88=
NM_001369394.2:c.264_266delinsTCC	NP_001356323.1:p.Ala88=
NM_001386137.1:c.-127_-125delinsTCC	NP_001373066.1:n.-127_-125delinsTCC
NM_001386138.1:c.-127_-125delinsTCC	NP_001373067.1:n.-127_-125delinsTCC
NM_001386139.1:c.-127_-125delinsTCC	NP_001373068.1:n.-127_-125delinsTCC
NM_004992.4:c.543_545delinsTCC MANE Plus Clinical	NP_004983.1:p.Ala181=