Canonical Allele Identifier: CA2466570972

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031332_154031333delinsAG , CM000685.2:g.154031332_154031333delinsAG	GRCh38
NC_000023.10:g.153296783_153296784delinsAG , CM000685.1:g.153296783_153296784delinsAG	GRCh37
NC_000023.9:g.152949977_152949978delinsAG	NCBI36
NG_007107.2:g.110795_110796delinsCT
NG_007107.3:g.110771_110772delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.495_496delinsCT MANE Plus Clinical	ENSP00000301948.6:p.Pro165=
ENST00000453960.7:c.531_532delinsCT MANE Select	ENSP00000395535.2:p.Pro177=
ENST00000637917.1:c.65+63_65+64delinsCT
ENST00000303391.10:c.495_496delinsCT	ENSP00000301948.6:p.Pro165=
ENST00000407218.5:c.469-47_469-46delinsCT	ENSP00000384865.2:n.469-47_469-46delinsCT
ENST00000453960.6:c.531_532delinsCT	ENSP00000395535.2:p.Pro177=
ENST00000486506.5:n.2843_2844delinsCT
ENST00000611468.1:c.481_482delinsCT	ENSP00000479736.1:p.Leu161=
ENST00000619732.4:c.495_496delinsCT	ENSP00000480973.1:p.Pro165=
ENST00000622433.4:c.483_484delinsCT	ENSP00000484470.1:p.Pro161=
ENST00000628176.2:c.433-47_433-46delinsCT	ENSP00000486978.1:n.433-47_433-46delinsCT
NM_001110792.1:c.531_532delinsCT	NP_001104262.1:p.Pro177=
NM_001316337.1:c.216_217delinsCT	NP_001303266.1:p.Pro72=
NM_004992.3:c.495_496delinsCT	NP_004983.1:p.Pro165=
XM_005274681.3:c.495_496delinsCT	XP_005274738.1:p.Pro165=
XM_005274682.3:c.216_217delinsCT	XP_005274739.1:p.Pro72=
XM_005274683.3:c.216_217delinsCT	XP_005274740.1:p.Pro72=
XM_006724819.2:c.-128-47_-128-46delinsCT	XP_006724882.1:n.-128-47_-128-46delinsCT
XM_011531166.1:c.216_217delinsCT	XP_011529468.1:p.Pro72=
XM_006724819.3:c.-128-47_-128-46delinsCT	XP_006724882.1:n.-128-47_-128-46delinsCT
XM_011531166.2:c.216_217delinsCT	XP_011529468.1:p.Pro72=
XM_024452383.1:c.216_217delinsCT	XP_024308151.1:p.Pro72=
XM_024452384.1:c.216_217delinsCT	XP_024308152.1:p.Pro72=
NM_001110792.2:c.531_532delinsCT MANE Select	NP_001104262.1:p.Pro177=
NM_001316337.2:c.216_217delinsCT	NP_001303266.1:p.Pro72=
NM_001369391.2:c.216_217delinsCT	NP_001356320.1:p.Pro72=
NM_001369392.2:c.216_217delinsCT	NP_001356321.1:p.Pro72=
NM_001369393.2:c.216_217delinsCT	NP_001356322.1:p.Pro72=
NM_001369394.1:c.216_217delinsCT	NP_001356323.1:p.Pro72=
NM_001369394.2:c.216_217delinsCT	NP_001356323.1:p.Pro72=
NM_001386137.1:c.-128-47_-128-46delinsCT	NP_001373066.1:n.-128-47_-128-46delinsCT
NM_001386138.1:c.-128-47_-128-46delinsCT	NP_001373067.1:n.-128-47_-128-46delinsCT
NM_001386139.1:c.-128-47_-128-46delinsCT	NP_001373068.1:n.-128-47_-128-46delinsCT
NM_004992.4:c.495_496delinsCT MANE Plus Clinical	NP_004983.1:p.Pro165=