Canonical Allele Identifier: CA2580101885

Gene: MECP2

Linked Data

• ClinVar Variation Id: 1727527
• ClinVar RCV Id: RCV002325867

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030602_154030701del , CM000685.2:g.154030602_154030701del	GRCh38
NC_000023.10:g.153296053_153296152del , CM000685.1:g.153296053_153296152del	GRCh37
NC_000023.9:g.152949247_152949346del	NCBI36
NG_007107.2:g.111429_111528del
NG_007107.3:g.111405_111504del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.1129_1228del MANE Plus Clinical	ENSP00000301948.6:p.Lys377AlafsTer?
ENST00000453960.7:c.1165_1264del MANE Select	ENSP00000395535.2:p.Lys389AlafsTer?
ENST00000303391.10:c.1129_1228del	ENSP00000301948.6:p.Lys377AlafsTer?
ENST00000453960.6:c.1165_1264del	ENSP00000395535.2:p.Lys389AlafsTer?
ENST00000619732.4:c.1129_1228del	ENSP00000480973.1:p.Lys377AlafsTer?
ENST00000628176.2:c.*501_*600del	ENSP00000486978.1:n.*501_*600del
NM_001110792.1:c.1165_1264del	NP_001104262.1:p.Lys389AlafsTer?
NM_001316337.1:c.850_949del	NP_001303266.1:p.Lys284AlafsTer?
NM_004992.3:c.1129_1228del	NP_004983.1:p.Lys377AlafsTer?
XM_005274681.3:c.1129_1228del	XP_005274738.1:p.Lys377AlafsTer?
XM_005274682.3:c.850_949del	XP_005274739.1:p.Lys284AlafsTer?
XM_005274683.3:c.850_949del	XP_005274740.1:p.Lys284AlafsTer?
XM_006724819.2:c.460_559del	XP_006724882.1:p.Lys154AlafsTer?
XM_011531166.1:c.850_949del	XP_011529468.1:p.Lys284AlafsTer?
XM_006724819.3:c.460_559del	XP_006724882.1:p.Lys154AlafsTer?
XM_011531166.2:c.850_949del	XP_011529468.1:p.Lys284AlafsTer?
XM_024452383.1:c.850_949del	XP_024308151.1:p.Lys284AlafsTer?
XM_024452384.1:c.850_949del	XP_024308152.1:p.Lys284AlafsTer?
NM_001110792.2:c.1165_1264del MANE Select	NP_001104262.1:p.Lys389AlafsTer?
NM_001316337.2:c.850_949del	NP_001303266.1:p.Lys284AlafsTer?
NM_001369391.2:c.850_949del	NP_001356320.1:p.Lys284AlafsTer?
NM_001369392.2:c.850_949del	NP_001356321.1:p.Lys284AlafsTer?
NM_001369393.2:c.850_949del	NP_001356322.1:p.Lys284AlafsTer?
NM_001369394.1:c.850_949del	NP_001356323.1:p.Lys284AlafsTer?
NM_001369394.2:c.850_949del	NP_001356323.1:p.Lys284AlafsTer?
NM_001386137.1:c.460_559del	NP_001373066.1:p.Lys154AlafsTer?
NM_001386138.1:c.460_559del	NP_001373067.1:p.Lys154AlafsTer?
NM_001386139.1:c.460_559del	NP_001373068.1:p.Lys154AlafsTer?
NM_004992.4:c.1129_1228del MANE Plus Clinical	NP_004983.1:p.Lys377AlafsTer?