Canonical Allele Identifier: CA873305707

Gene: MECP2

Linked Data

• dbSNP Id: rs1461337538
• gnomAD v4: X-154097532-GCGCCACGTCCCGCCCCTGACCCC-G
• MyVariant Identifiers: chrX:g.154097533_154097555del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097537_154097559del , CM000685.2:g.154097537_154097559del	GRCh38
NC_000023.10:g.153362994_153363016del , CM000685.1:g.153362994_153363016del	GRCh37
NC_000023.9:g.153016188_153016210del	NCBI36
NG_007107.2:g.44567_44589del
NG_007107.3:g.44549_44571del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.22+49_22+71del
ENST00000303391.11:c.-99+49_-99+71del MANE Plus Clinical	ENSP00000301948.6:n.-99+49_-99+71del
ENST00000453960.7:c.62+49_62+71del MANE Select	ENSP00000395535.2:n.62+49_62+71del
ENST00000676382.1:n.22+49_22+71del
ENST00000303391.10:c.-99+49_-99+71del	ENSP00000301948.6:n.-99+49_-99+71del
ENST00000369957.5:c.-99+49_-99+71del	ENSP00000358973.4:n.-99+49_-99+71del
ENST00000407218.5:c.62+49_62+71del	ENSP00000384865.2:n.62+49_62+71del
ENST00000453960.6:c.62+49_62+71del	ENSP00000395535.2:n.62+49_62+71del
ENST00000619732.4:c.-99+49_-99+71del	ENSP00000480973.1:n.-99+49_-99+71del
ENST00000627864.1:n.77+49_77+71del
ENST00000628176.2:c.-99+49_-99+71del	ENSP00000486978.1:n.-99+49_-99+71del
ENST00000631210.1:n.305+7226_305+7248del
NM_001110792.1:c.62+49_62+71del	NP_001104262.1:n.62+49_62+71del
NM_001316337.1:c.-546+49_-546+71del	NP_001303266.1:n.-546+49_-546+71del
NM_004992.3:c.-99+49_-99+71del	NP_004983.1:n.-99+49_-99+71del
XM_005274682.3:c.-490+49_-490+71del	XP_005274739.1:n.-490+49_-490+71del
NM_001110792.2:c.62+49_62+71del MANE Select	NP_001104262.1:n.62+49_62+71del
NM_001316337.2:c.-546+49_-546+71del	NP_001303266.1:n.-546+49_-546+71del
NM_001369391.2:c.-841+49_-841+71del	NP_001356320.1:n.-841+49_-841+71del
NM_001369392.2:c.-490+49_-490+71del	NP_001356321.1:n.-490+49_-490+71del
NM_001369393.2:c.-366+49_-366+71del	NP_001356322.1:n.-366+49_-366+71del
NM_001386137.1:c.-771+49_-771+71del	NP_001373066.1:n.-771+49_-771+71del
NM_001386138.1:c.-659+49_-659+71del	NP_001373067.1:n.-659+49_-659+71del
NM_001386139.1:c.-535+49_-535+71del	NP_001373068.1:n.-535+49_-535+71del
NM_004992.4:c.-99+49_-99+71del MANE Plus Clinical	NP_004983.1:n.-99+49_-99+71del