Canonical Allele Identifier: CA2580101897

Gene: MECP2

Linked Data

• ClinVar Variation Id: 1759278
• ClinVar RCV Id: RCV002393778

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030975_154031077del , CM000685.2:g.154030975_154031077del	GRCh38
NC_000023.10:g.153296426_153296528del , CM000685.1:g.153296426_153296528del	GRCh37
NC_000023.9:g.152949620_152949722del	NCBI36
NG_007107.2:g.111051_111153del
NG_007107.3:g.111027_111129del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.751_853del MANE Plus Clinical	ENSP00000301948.6:p.Pro251ArgfsTer4
ENST00000453960.7:c.787_889del MANE Select	ENSP00000395535.2:p.Pro263ArgfsTer4
ENST00000637917.1:c.66-141_66-39del
ENST00000303391.10:c.751_853del	ENSP00000301948.6:p.Pro251ArgfsTer4
ENST00000407218.5:c.*123_*225del	ENSP00000384865.2:n.*123_*225del
ENST00000453960.6:c.787_889del	ENSP00000395535.2:p.Pro263ArgfsTer4
ENST00000619732.4:c.751_853del	ENSP00000480973.1:p.Pro251ArgfsTer4
ENST00000622433.4:c.739_841del	ENSP00000484470.1:p.Pro247ArgfsTer4
ENST00000628176.2:c.*123_*225del	ENSP00000486978.1:n.*123_*225del
NM_001110792.1:c.787_889del	NP_001104262.1:p.Pro263ArgfsTer4
NM_001316337.1:c.472_574del	NP_001303266.1:p.Pro158ArgfsTer4
NM_004992.3:c.751_853del	NP_004983.1:p.Pro251ArgfsTer4
XM_005274681.3:c.751_853del	XP_005274738.1:p.Pro251ArgfsTer4
XM_005274682.3:c.472_574del	XP_005274739.1:p.Pro158ArgfsTer4
XM_005274683.3:c.472_574del	XP_005274740.1:p.Pro158ArgfsTer4
XM_006724819.2:c.82_184del	XP_006724882.1:p.Pro28ArgfsTer4
XM_011531166.1:c.472_574del	XP_011529468.1:p.Pro158ArgfsTer4
XM_006724819.3:c.82_184del	XP_006724882.1:p.Pro28ArgfsTer4
XM_011531166.2:c.472_574del	XP_011529468.1:p.Pro158ArgfsTer4
XM_024452383.1:c.472_574del	XP_024308151.1:p.Pro158ArgfsTer4
XM_024452384.1:c.472_574del	XP_024308152.1:p.Pro158ArgfsTer4
NM_001110792.2:c.787_889del MANE Select	NP_001104262.1:p.Pro263ArgfsTer4
NM_001316337.2:c.472_574del	NP_001303266.1:p.Pro158ArgfsTer4
NM_001369391.2:c.472_574del	NP_001356320.1:p.Pro158ArgfsTer4
NM_001369392.2:c.472_574del	NP_001356321.1:p.Pro158ArgfsTer4
NM_001369393.2:c.472_574del	NP_001356322.1:p.Pro158ArgfsTer4
NM_001369394.1:c.472_574del	NP_001356323.1:p.Pro158ArgfsTer4
NM_001369394.2:c.472_574del	NP_001356323.1:p.Pro158ArgfsTer4
NM_001386137.1:c.82_184del	NP_001373066.1:p.Pro28ArgfsTer4
NM_001386138.1:c.82_184del	NP_001373067.1:p.Pro28ArgfsTer4
NM_001386139.1:c.82_184del	NP_001373068.1:p.Pro28ArgfsTer4
NM_004992.4:c.751_853del MANE Plus Clinical	NP_004983.1:p.Pro251ArgfsTer4