Canonical Allele Identifier: CA1138566709

Gene: MECP2

Linked Data

• gnomAD v3: X-154097488-A-ATAG
• gnomAD v4: X-154097488-A-ATAG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097488_154097489insTAG , CM000685.2:g.154097488_154097489insTAG	GRCh38
NC_000023.10:g.153362945_153362946insTAG , CM000685.1:g.153362945_153362946insTAG	GRCh37
NC_000023.9:g.153016139_153016140insTAG	NCBI36
NG_007107.2:g.44633_44634insCTA
NG_007107.3:g.44615_44616insCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.22+115_22+116insCTA
ENST00000303391.11:c.-99+115_-99+116insCTA MANE Plus Clinical	ENSP00000301948.6:n.-99+115_-99+116insCTA
ENST00000453960.7:c.62+115_62+116insCTA MANE Select	ENSP00000395535.2:n.62+115_62+116insCTA
ENST00000676382.1:n.22+115_22+116insCTA
ENST00000303391.10:c.-99+115_-99+116insCTA	ENSP00000301948.6:n.-99+115_-99+116insCTA
ENST00000369957.5:c.-99+115_-99+116insCTA	ENSP00000358973.4:n.-99+115_-99+116insCTA
ENST00000407218.5:c.62+115_62+116insCTA	ENSP00000384865.2:n.62+115_62+116insCTA
ENST00000453960.6:c.62+115_62+116insCTA	ENSP00000395535.2:n.62+115_62+116insCTA
ENST00000619732.4:c.-99+115_-99+116insCTA	ENSP00000480973.1:n.-99+115_-99+116insCTA
ENST00000627864.1:n.77+115_77+116insCTA
ENST00000628176.2:c.-99+115_-99+116insCTA	ENSP00000486978.1:n.-99+115_-99+116insCTA
ENST00000629277.1:n.35_36insCTA
ENST00000631210.1:n.305+7292_305+7293insCTA
NM_001110792.1:c.62+115_62+116insCTA	NP_001104262.1:n.62+115_62+116insCTA
NM_001316337.1:c.-546+115_-546+116insCTA	NP_001303266.1:n.-546+115_-546+116insCTA
NM_004992.3:c.-99+115_-99+116insCTA	NP_004983.1:n.-99+115_-99+116insCTA
XM_005274682.3:c.-490+115_-490+116insCTA	XP_005274739.1:n.-490+115_-490+116insCTA
NM_001110792.2:c.62+115_62+116insCTA MANE Select	NP_001104262.1:n.62+115_62+116insCTA
NM_001316337.2:c.-546+115_-546+116insCTA	NP_001303266.1:n.-546+115_-546+116insCTA
NM_001369391.2:c.-841+115_-841+116insCTA	NP_001356320.1:n.-841+115_-841+116insCTA
NM_001369392.2:c.-490+115_-490+116insCTA	NP_001356321.1:n.-490+115_-490+116insCTA
NM_001369393.2:c.-366+115_-366+116insCTA	NP_001356322.1:n.-366+115_-366+116insCTA
NM_001386137.1:c.-771+115_-771+116insCTA	NP_001373066.1:n.-771+115_-771+116insCTA
NM_001386138.1:c.-659+115_-659+116insCTA	NP_001373067.1:n.-659+115_-659+116insCTA
NM_001386139.1:c.-535+115_-535+116insCTA	NP_001373068.1:n.-535+115_-535+116insCTA
NM_004992.4:c.-99+115_-99+116insCTA MANE Plus Clinical	NP_004983.1:n.-99+115_-99+116insCTA