Canonical Allele Identifier: CA270343

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143531
• ClinVar RCV Id: RCV000133063
• dbSNP Id: rs63749010
• MyVariant Identifiers: chrX:g.153297712_153297724del (hg19) ; chrX:g.154032261_154032273del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032264_154032276del , CM000685.2:g.154032264_154032276del	GRCh38
NC_000023.10:g.153297715_153297727del , CM000685.1:g.153297715_153297727del	GRCh37
NC_000023.9:g.152950909_152950921del	NCBI36
NG_007107.2:g.109855_109867del
NG_007107.3:g.109831_109843del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.311_323del MANE Plus Clinical	ENSP00000301948.6:p.Trp104LeufsTer17
ENST00000453960.7:c.347_359del MANE Select	ENSP00000395535.2:p.Trp116LeufsTer17
ENST00000303391.10:c.311_323del	ENSP00000301948.6:p.Trp104LeufsTer17
ENST00000369957.5:c.*365_*377del	ENSP00000358973.4:n.*365_*377del
ENST00000407218.5:c.347_359del	ENSP00000384865.2:p.Trp116LeufsTer17
ENST00000453960.6:c.347_359del	ENSP00000395535.2:p.Trp116LeufsTer17
ENST00000486506.5:n.2659_2671del
ENST00000611468.1:c.299_311del	ENSP00000479736.1:p.Trp100LeufsTer17
ENST00000619732.4:c.311_323del	ENSP00000480973.1:p.Trp104LeufsTer17
ENST00000622433.4:c.299_311del	ENSP00000484470.1:p.Trp100LeufsTer17
ENST00000628176.2:c.311_323del	ENSP00000486978.1:p.Trp104LeufsTer17
NM_001110792.1:c.347_359del	NP_001104262.1:p.Trp116LeufsTer17
NM_001316337.1:c.32_44del	NP_001303266.1:p.Trp11LeufsTer17
NM_004992.3:c.311_323del	NP_004983.1:p.Trp104LeufsTer17
XM_005274681.3:c.311_323del	XP_005274738.1:p.Trp104LeufsTer17
XM_005274682.3:c.32_44del	XP_005274739.1:p.Trp11LeufsTer17
XM_005274683.3:c.32_44del	XP_005274740.1:p.Trp11LeufsTer17
XM_011531166.1:c.32_44del	XP_011529468.1:p.Trp11LeufsTer17
XM_006724819.3:c.-250_-238del	XP_006724882.1:n.-250_-238del
XM_011531166.2:c.32_44del	XP_011529468.1:p.Trp11LeufsTer17
XM_024452383.1:c.32_44del	XP_024308151.1:p.Trp11LeufsTer17
XM_024452384.1:c.32_44del	XP_024308152.1:p.Trp11LeufsTer17
NM_001110792.2:c.347_359del MANE Select	NP_001104262.1:p.Trp116LeufsTer17
NM_001316337.2:c.32_44del	NP_001303266.1:p.Trp11LeufsTer17
NM_001369391.2:c.32_44del	NP_001356320.1:p.Trp11LeufsTer17
NM_001369392.2:c.32_44del	NP_001356321.1:p.Trp11LeufsTer17
NM_001369393.2:c.32_44del	NP_001356322.1:p.Trp11LeufsTer17
NM_001369394.1:c.32_44del	NP_001356323.1:p.Trp11LeufsTer17
NM_001369394.2:c.32_44del	NP_001356323.1:p.Trp11LeufsTer17
NM_001386137.1:c.-250_-238del	NP_001373066.1:n.-250_-238del
NM_001386138.1:c.-250_-238del	NP_001373067.1:n.-250_-238del
NM_001386139.1:c.-250_-238del	NP_001373068.1:n.-250_-238del
NM_004992.4:c.311_323del MANE Plus Clinical	NP_004983.1:p.Trp104LeufsTer17