Canonical Allele Identifier: CA2573159386

Gene: MECP2

Linked Data

• ClinVar Variation Id: 1403027
• ClinVar RCV Id: RCV001925264
• dbSNP Id: rs2148662532

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031029_154031068del , CM000685.2:g.154031029_154031068del	GRCh38
NC_000023.10:g.153296480_153296519del , CM000685.1:g.153296480_153296519del	GRCh37
NC_000023.9:g.152949674_152949713del	NCBI36
NG_007107.2:g.111062_111101del
NG_007107.3:g.111038_111077del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.762_801del MANE Plus Clinical	ENSP00000301948.6:p.Lys254AsnfsTer22
ENST00000453960.7:c.798_837del MANE Select	ENSP00000395535.2:p.Lys266AsnfsTer22
ENST00000637917.1:c.66-130_66-91del
ENST00000303391.10:c.762_801del	ENSP00000301948.6:p.Lys254AsnfsTer22
ENST00000407218.5:c.*134_*173del	ENSP00000384865.2:n.*134_*173del
ENST00000453960.6:c.798_837del	ENSP00000395535.2:p.Lys266AsnfsTer22
ENST00000619732.4:c.762_801del	ENSP00000480973.1:p.Lys254AsnfsTer22
ENST00000622433.4:c.750_789del	ENSP00000484470.1:p.Lys250AsnfsTer22
ENST00000628176.2:c.*134_*173del	ENSP00000486978.1:n.*134_*173del
NM_001110792.1:c.798_837del	NP_001104262.1:p.Lys266AsnfsTer22
NM_001316337.1:c.483_522del	NP_001303266.1:p.Lys161AsnfsTer22
NM_004992.3:c.762_801del	NP_004983.1:p.Lys254AsnfsTer22
XM_005274681.3:c.762_801del	XP_005274738.1:p.Lys254AsnfsTer22
XM_005274682.3:c.483_522del	XP_005274739.1:p.Lys161AsnfsTer22
XM_005274683.3:c.483_522del	XP_005274740.1:p.Lys161AsnfsTer22
XM_006724819.2:c.93_132del	XP_006724882.1:p.Lys31AsnfsTer22
XM_011531166.1:c.483_522del	XP_011529468.1:p.Lys161AsnfsTer22
XM_006724819.3:c.93_132del	XP_006724882.1:p.Lys31AsnfsTer22
XM_011531166.2:c.483_522del	XP_011529468.1:p.Lys161AsnfsTer22
XM_024452383.1:c.483_522del	XP_024308151.1:p.Lys161AsnfsTer22
XM_024452384.1:c.483_522del	XP_024308152.1:p.Lys161AsnfsTer22
NM_001110792.2:c.798_837del MANE Select	NP_001104262.1:p.Lys266AsnfsTer22
NM_001316337.2:c.483_522del	NP_001303266.1:p.Lys161AsnfsTer22
NM_001369391.2:c.483_522del	NP_001356320.1:p.Lys161AsnfsTer22
NM_001369392.2:c.483_522del	NP_001356321.1:p.Lys161AsnfsTer22
NM_001369393.2:c.483_522del	NP_001356322.1:p.Lys161AsnfsTer22
NM_001369394.1:c.483_522del	NP_001356323.1:p.Lys161AsnfsTer22
NM_001369394.2:c.483_522del	NP_001356323.1:p.Lys161AsnfsTer22
NM_001386137.1:c.93_132del	NP_001373066.1:p.Lys31AsnfsTer22
NM_001386138.1:c.93_132del	NP_001373067.1:p.Lys31AsnfsTer22
NM_001386139.1:c.93_132del	NP_001373068.1:p.Lys31AsnfsTer22
NM_004992.4:c.762_801del MANE Plus Clinical	NP_004983.1:p.Lys254AsnfsTer22