Canonical Allele Identifier: CA2466571037

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031437_154031438delinsCT , CM000685.2:g.154031437_154031438delinsCT	GRCh38
NC_000023.10:g.153296888_153296889delinsCT , CM000685.1:g.153296888_153296889delinsCT	GRCh37
NC_000023.9:g.152950082_152950083delinsCT	NCBI36
NG_007107.2:g.110690_110691delinsAG
NG_007107.3:g.110666_110667delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.390_391delinsAG MANE Plus Clinical	ENSP00000301948.6:p.Lys130=
ENST00000453960.7:c.426_427delinsAG MANE Select	ENSP00000395535.2:p.Lys142=
ENST00000637917.1:c.23_24delinsAG
ENST00000303391.10:c.390_391delinsAG	ENSP00000301948.6:p.Lys130=
ENST00000369957.5:c.*444_*445delinsAG	ENSP00000358973.4:n.*444_*445delinsAG
ENST00000407218.5:c.426_427delinsAG	ENSP00000384865.2:p.Lys142=
ENST00000453960.6:c.426_427delinsAG	ENSP00000395535.2:p.Lys142=
ENST00000486506.5:n.2738_2739delinsAG
ENST00000611468.1:c.378_379delinsAG	ENSP00000479736.1:p.Lys126=
ENST00000619732.4:c.390_391delinsAG	ENSP00000480973.1:p.Lys130=
ENST00000622433.4:c.378_379delinsAG	ENSP00000484470.1:p.Lys126=
ENST00000628176.2:c.390_391delinsAG	ENSP00000486978.1:p.Lys130=
NM_001110792.1:c.426_427delinsAG	NP_001104262.1:p.Lys142=
NM_001316337.1:c.111_112delinsAG	NP_001303266.1:p.Lys37=
NM_004992.3:c.390_391delinsAG	NP_004983.1:p.Lys130=
XM_005274681.3:c.390_391delinsAG	XP_005274738.1:p.Lys130=
XM_005274682.3:c.111_112delinsAG	XP_005274739.1:p.Lys37=
XM_005274683.3:c.111_112delinsAG	XP_005274740.1:p.Lys37=
XM_006724819.2:c.-171_-170delinsAG	XP_006724882.1:n.-171_-170delinsAG
XM_011531166.1:c.111_112delinsAG	XP_011529468.1:p.Lys37=
XM_006724819.3:c.-171_-170delinsAG	XP_006724882.1:n.-171_-170delinsAG
XM_011531166.2:c.111_112delinsAG	XP_011529468.1:p.Lys37=
XM_024452383.1:c.111_112delinsAG	XP_024308151.1:p.Lys37=
XM_024452384.1:c.111_112delinsAG	XP_024308152.1:p.Lys37=
NM_001110792.2:c.426_427delinsAG MANE Select	NP_001104262.1:p.Lys142=
NM_001316337.2:c.111_112delinsAG	NP_001303266.1:p.Lys37=
NM_001369391.2:c.111_112delinsAG	NP_001356320.1:p.Lys37=
NM_001369392.2:c.111_112delinsAG	NP_001356321.1:p.Lys37=
NM_001369393.2:c.111_112delinsAG	NP_001356322.1:p.Lys37=
NM_001369394.1:c.111_112delinsAG	NP_001356323.1:p.Lys37=
NM_001369394.2:c.111_112delinsAG	NP_001356323.1:p.Lys37=
NM_001386137.1:c.-171_-170delinsAG	NP_001373066.1:n.-171_-170delinsAG
NM_001386138.1:c.-171_-170delinsAG	NP_001373067.1:n.-171_-170delinsAG
NM_001386139.1:c.-171_-170delinsAG	NP_001373068.1:n.-171_-170delinsAG
NM_004992.4:c.390_391delinsAG MANE Plus Clinical	NP_004983.1:p.Lys130=