Canonical Allele Identifier: CA198826

Gene: MECP2

Linked Data

• MyVariant Identifiers: chrX:g.153296204_153296756delinsCG (hg19) ; chrX:g.154030753_154031305delinsCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030753_154031305delinsCG , CM000685.2:g.154030753_154031305delinsCG	GRCh38
NC_000023.10:g.153296204_153296756delinsCG , CM000685.1:g.153296204_153296756delinsCG	GRCh37
NC_000023.9:g.152949398_152949950delinsCG	NCBI36
NG_007107.2:g.110823_111375delinsCG
NG_007107.3:g.110799_111351delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.523_1075delinsCG MANE Plus Clinical	ENSP00000301948.6:p.Lys175ArgfsTer?
ENST00000453960.7:c.559_1111delinsCG MANE Select	ENSP00000395535.2:p.Lys187ArgfsTer?
ENST00000303391.10:c.523_1075delinsCG	ENSP00000301948.6:p.Lys175ArgfsTer?
ENST00000407218.5:c.469-19_*447delinsCG
ENST00000453960.6:c.559_1111delinsCG	ENSP00000395535.2:p.Lys187ArgfsTer?
ENST00000619732.4:c.523_1075delinsCG	ENSP00000480973.1:p.Lys175ArgfsTer?
ENST00000628176.2:c.433-19_*447delinsCG
NM_001110792.1:c.559_1111delinsCG	NP_001104262.1:p.Lys187ArgfsTer?
NM_001316337.1:c.244_796delinsCG	NP_001303266.1:p.Lys82ArgfsTer?
NM_004992.3:c.523_1075delinsCG	NP_004983.1:p.Lys175ArgfsTer?
XM_005274681.3:c.523_1075delinsCG	XP_005274738.1:p.Lys175ArgfsTer?
XM_005274682.3:c.244_796delinsCG	XP_005274739.1:p.Lys82ArgfsTer?
XM_005274683.3:c.244_796delinsCG	XP_005274740.1:p.Lys82ArgfsTer?
XM_006724819.2:c.-128-19_406delinsCG
XM_011531166.1:c.244_796delinsCG	XP_011529468.1:p.Lys82ArgfsTer?
XM_006724819.3:c.-128-19_406delinsCG
XM_011531166.2:c.244_796delinsCG	XP_011529468.1:p.Lys82ArgfsTer?
XM_024452383.1:c.244_796delinsCG	XP_024308151.1:p.Lys82ArgfsTer?
XM_024452384.1:c.244_796delinsCG	XP_024308152.1:p.Lys82ArgfsTer?
NM_001110792.2:c.559_1111delinsCG MANE Select	NP_001104262.1:p.Lys187ArgfsTer?
NM_001316337.2:c.244_796delinsCG	NP_001303266.1:p.Lys82ArgfsTer?
NM_001369391.2:c.244_796delinsCG	NP_001356320.1:p.Lys82ArgfsTer?
NM_001369392.2:c.244_796delinsCG	NP_001356321.1:p.Lys82ArgfsTer?
NM_001369393.2:c.244_796delinsCG	NP_001356322.1:p.Lys82ArgfsTer?
NM_001369394.1:c.244_796delinsCG	NP_001356323.1:p.Lys82ArgfsTer?
NM_001369394.2:c.244_796delinsCG	NP_001356323.1:p.Lys82ArgfsTer?
NM_001386137.1:c.-128-19_406delinsCG
NM_001386138.1:c.-128-19_406delinsCG
NM_001386139.1:c.-128-19_406delinsCG
NM_004992.4:c.523_1075delinsCG MANE Plus Clinical	NP_004983.1:p.Lys175ArgfsTer?