Canonical Allele Identifier: CA2466594769

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097618_154097621delinsGCCT , CM000685.2:g.154097618_154097621delinsGCCT	GRCh38
NC_000023.10:g.153363075_153363078delinsGCCT , CM000685.1:g.153363075_153363078delinsGCCT	GRCh37
NC_000023.9:g.153016269_153016272delinsGCCT	NCBI36
NG_007107.2:g.44501_44504delinsAGGC
NG_007107.3:g.44483_44486delinsAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.5_8delinsAGGC
ENST00000303391.11:c.-116_-113delinsAGGC MANE Plus Clinical	ENSP00000301948.6:n.-116_-113delinsAGGC
ENST00000453960.7:c.45_48delinsAGGC MANE Select	ENSP00000395535.2:p.Gly15=
ENST00000676382.1:n.5_8delinsAGGC
ENST00000303391.10:c.-116_-113delinsAGGC	ENSP00000301948.6:n.-116_-113delinsAGGC
ENST00000369957.5:c.-116_-113delinsAGGC	ENSP00000358973.4:n.-116_-113delinsAGGC
ENST00000407218.5:c.45_48delinsAGGC	ENSP00000384865.2:p.Gly15=
ENST00000453960.6:c.45_48delinsAGGC	ENSP00000395535.2:p.Gly15=
ENST00000619732.4:c.-116_-113delinsAGGC	ENSP00000480973.1:n.-116_-113delinsAGGC
ENST00000627864.1:n.60_63delinsAGGC
ENST00000628176.2:c.-116_-113delinsAGGC	ENSP00000486978.1:n.-116_-113delinsAGGC
ENST00000631210.1:n.305+7160_305+7163delinsAGGC
NM_001110792.1:c.45_48delinsAGGC	NP_001104262.1:p.Gly15=
NM_001316337.1:c.-563_-560delinsAGGC	NP_001303266.1:n.-563_-560delinsAGGC
NM_004992.3:c.-116_-113delinsAGGC	NP_004983.1:n.-116_-113delinsAGGC
XM_005274682.3:c.-507_-504delinsAGGC	XP_005274739.1:n.-507_-504delinsAGGC
NM_001110792.2:c.45_48delinsAGGC MANE Select	NP_001104262.1:p.Gly15=
NM_001316337.2:c.-563_-560delinsAGGC	NP_001303266.1:n.-563_-560delinsAGGC
NM_001369391.2:c.-858_-855delinsAGGC	NP_001356320.1:n.-858_-855delinsAGGC
NM_001369392.2:c.-507_-504delinsAGGC	NP_001356321.1:n.-507_-504delinsAGGC
NM_001369393.2:c.-383_-380delinsAGGC	NP_001356322.1:n.-383_-380delinsAGGC
NM_001386137.1:c.-788_-785delinsAGGC	NP_001373066.1:n.-788_-785delinsAGGC
NM_001386138.1:c.-676_-673delinsAGGC	NP_001373067.1:n.-676_-673delinsAGGC
NM_001386139.1:c.-552_-549delinsAGGC	NP_001373068.1:n.-552_-549delinsAGGC
NM_004992.4:c.-116_-113delinsAGGC MANE Plus Clinical	NP_004983.1:n.-116_-113delinsAGGC