Canonical Allele Identifier: CA2466571584

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032350_154032351delinsAG , CM000685.2:g.154032350_154032351delinsAG	GRCh38
NC_000023.10:g.153297801_153297802delinsAG , CM000685.1:g.153297801_153297802delinsAG	GRCh37
NC_000023.9:g.152950995_152950996delinsAG	NCBI36
NG_007107.2:g.109777_109778delinsCT
NG_007107.3:g.109753_109754delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.233_234delinsCT MANE Plus Clinical	ENSP00000301948.6:p.Ser78=
ENST00000453960.7:c.269_270delinsCT MANE Select	ENSP00000395535.2:p.Ser90=
ENST00000303391.10:c.233_234delinsCT	ENSP00000301948.6:p.Ser78=
ENST00000369957.5:c.*287_*288delinsCT	ENSP00000358973.4:n.*287_*288delinsCT
ENST00000407218.5:c.269_270delinsCT	ENSP00000384865.2:p.Ser90=
ENST00000453960.6:c.269_270delinsCT	ENSP00000395535.2:p.Ser90=
ENST00000486506.5:n.2581_2582delinsCT
ENST00000611468.1:c.221_222delinsCT	ENSP00000479736.1:p.Ser74=
ENST00000619732.4:c.233_234delinsCT	ENSP00000480973.1:p.Ser78=
ENST00000622433.4:c.221_222delinsCT	ENSP00000484470.1:p.Ser74=
ENST00000628176.2:c.233_234delinsCT	ENSP00000486978.1:p.Ser78=
NM_001110792.1:c.269_270delinsCT	NP_001104262.1:p.Ser90=
NM_001316337.1:c.-47_-46delinsCT	NP_001303266.1:n.-47_-46delinsCT
NM_004992.3:c.233_234delinsCT	NP_004983.1:p.Ser78=
XM_005274681.3:c.233_234delinsCT	XP_005274738.1:p.Ser78=
XM_005274682.3:c.-47_-46delinsCT	XP_005274739.1:n.-47_-46delinsCT
XM_005274683.3:c.-47_-46delinsCT	XP_005274740.1:n.-47_-46delinsCT
XM_011531166.1:c.-47_-46delinsCT	XP_011529468.1:n.-47_-46delinsCT
XM_006724819.3:c.-328_-327delinsCT	XP_006724882.1:n.-328_-327delinsCT
XM_011531166.2:c.-47_-46delinsCT	XP_011529468.1:n.-47_-46delinsCT
XM_024452383.1:c.-47_-46delinsCT	XP_024308151.1:n.-47_-46delinsCT
XM_024452384.1:c.-47_-46delinsCT	XP_024308152.1:n.-47_-46delinsCT
NM_001110792.2:c.269_270delinsCT MANE Select	NP_001104262.1:p.Ser90=
NM_001316337.2:c.-47_-46delinsCT	NP_001303266.1:n.-47_-46delinsCT
NM_001369391.2:c.-47_-46delinsCT	NP_001356320.1:n.-47_-46delinsCT
NM_001369392.2:c.-47_-46delinsCT	NP_001356321.1:n.-47_-46delinsCT
NM_001369393.2:c.-47_-46delinsCT	NP_001356322.1:n.-47_-46delinsCT
NM_001369394.1:c.-47_-46delinsCT	NP_001356323.1:n.-47_-46delinsCT
NM_001369394.2:c.-47_-46delinsCT	NP_001356323.1:n.-47_-46delinsCT
NM_001386137.1:c.-328_-327delinsCT	NP_001373066.1:n.-328_-327delinsCT
NM_001386138.1:c.-328_-327delinsCT	NP_001373067.1:n.-328_-327delinsCT
NM_001386139.1:c.-328_-327delinsCT	NP_001373068.1:n.-328_-327delinsCT
NM_004992.4:c.233_234delinsCT MANE Plus Clinical	NP_004983.1:p.Ser78=