Canonical Allele Identifier: CA235616

Gene: MECP2

Linked Data

• ClinVar Variation Id: 189638
• ClinVar RCV Id: RCV003483554
• dbSNP Id: rs1557134784
• MyVariant Identifiers: chrX:g.153295789_153296238del (hg19) ; chrX:g.154030338_154030787del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030338_154030787del , CM000685.2:g.154030338_154030787del	GRCh38
NC_000023.10:g.153295789_153296238del , CM000685.1:g.153295789_153296238del	GRCh37
NC_000023.9:g.152948983_152949432del	NCBI36
NG_007107.2:g.111341_111790del
NG_007107.3:g.111317_111766del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.1041_*29del MANE Plus Clinical	ENSP00000301948.6:n.[c.1041_*29del;Lys347...
ENST00000453960.7:c.1077_*29del MANE Select	ENSP00000395535.2:n.[c.1077_*29del;Lys359...
ENST00000303391.10:c.1041_*29del	ENSP00000301948.6:n.[c.1041_*29del;Lys347...
ENST00000453960.6:c.1077_*29del	ENSP00000395535.2:n.[c.1077_*29del;Lys359...
ENST00000619732.4:c.1041_1486del
ENST00000628176.2:c.*413_*862del	ENSP00000486978.1:n.*413_*862del
NM_001110792.1:c.1077_*29del	NP_001104262.1:n.[c.1077_*29del;Lys359Asn...
NM_001316337.1:c.762_*29del	NP_001303266.1:n.[c.762_*29del;Lys254Asnf...
NM_004992.3:c.1041_*29del	NP_004983.1:n.[c.1041_*29del;Lys347AsnfsT...
XM_005274681.3:c.1041_*29del	XP_005274738.1:n.[c.1041_*29del;Lys347Asn...
XM_005274682.3:c.762_*29del	XP_005274739.1:n.[c.762_*29del;Lys254Asnf...
XM_005274683.3:c.762_*29del	XP_005274740.1:n.[c.762_*29del;Lys254Asnf...
XM_006724819.2:c.372_*29del	XP_006724882.1:n.[c.372_*29del;Lys124Asnf...
XM_011531166.1:c.762_*29del	XP_011529468.1:n.[c.762_*29del;Lys254Asnf...
XM_006724819.3:c.372_*29del	XP_006724882.1:n.[c.372_*29del;Lys124Asnf...
XM_011531166.2:c.762_*29del	XP_011529468.1:n.[c.762_*29del;Lys254Asnf...
XM_024452383.1:c.762_*29del	XP_024308151.1:n.[c.762_*29del;Lys254Asnf...
XM_024452384.1:c.762_*29del	XP_024308152.1:n.[c.762_*29del;Lys254Asnf...
NM_001110792.2:c.1077_*29del MANE Select	NP_001104262.1:n.[c.1077_*29del;Lys359Asn...
NM_001316337.2:c.762_*29del	NP_001303266.1:n.[c.762_*29del;Lys254Asnf...
NM_001369391.2:c.762_*29del	NP_001356320.1:n.[c.762_*29del;Lys254Asnf...
NM_001369392.2:c.762_*29del	NP_001356321.1:n.[c.762_*29del;Lys254Asnf...
NM_001369393.2:c.762_*29del	NP_001356322.1:n.[c.762_*29del;Lys254Asnf...
NM_001369394.1:c.762_*29del	NP_001356323.1:n.[c.762_*29del;Lys254Asnf...
NM_001369394.2:c.762_*29del	NP_001356323.1:n.[c.762_*29del;Lys254Asnf...
NM_001386137.1:c.372_*29del	NP_001373066.1:n.[c.372_*29del;Lys124Asnf...
NM_001386138.1:c.372_*29del	NP_001373067.1:n.[c.372_*29del;Lys124Asnf...
NM_001386139.1:c.372_*29del	NP_001373068.1:n.[c.372_*29del;Lys124Asnf...
NM_004992.4:c.1041_*29del MANE Plus Clinical	NP_004983.1:n.[c.1041_*29del;Lys347AsnfsT...