Canonical Allele Identifier: CA2466570060

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030342_154030378delinsGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCT , CM000685.2:g.154030342_154030378delinsGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCT	GRCh38
NC_000023.10:g.153295793_153295829delinsGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCT , CM000685.1:g.153295793_153295829delinsGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCT	GRCh37
NC_000023.9:g.152948987_152949023delinsGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCT	NCBI36
NG_007107.2:g.111750_111786delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC
NG_007107.3:g.111726_111762delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.1450_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC MANE Plus Clinical	ENSP00000301948.6:n.[c.1450_*25delinsAGAG...
ENST00000453960.7:c.1486_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC MANE Select	ENSP00000395535.2:n.[c.1486_*25delinsAGAG...
ENST00000303391.10:c.1450_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	ENSP00000301948.6:n.[c.1450_*25delinsAGAG...
ENST00000453960.6:c.1486_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	ENSP00000395535.2:n.[c.1486_*25delinsAGAG...
ENST00000619732.4:c.1449+1_1482delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC
ENST00000628176.2:c.*822_*858delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	ENSP00000486978.1:n.*822_*858delinsAGAGTT...
NM_001110792.1:c.1486_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	NP_001104262.1:n.[c.1486_*25delinsAGAGTTA...
NM_001316337.1:c.1171_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	NP_001303266.1:n.[c.1171_*25delinsAGAGTTA...
NM_004992.3:c.1450_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	NP_004983.1:n.[c.1450_*25delinsAGAGTTAGCT...
XM_005274681.3:c.1450_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	XP_005274738.1:n.[c.1450_*25delinsAGAGTTA...
XM_005274682.3:c.1171_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	XP_005274739.1:n.[c.1171_*25delinsAGAGTTA...
XM_005274683.3:c.1171_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	XP_005274740.1:n.[c.1171_*25delinsAGAGTTA...
XM_006724819.2:c.781_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	XP_006724882.1:n.[c.781_*25delinsAGAGTTAG...
XM_011531166.1:c.1171_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	XP_011529468.1:n.[c.1171_*25delinsAGAGTTA...
XM_006724819.3:c.781_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	XP_006724882.1:n.[c.781_*25delinsAGAGTTAG...
XM_011531166.2:c.1171_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	XP_011529468.1:n.[c.1171_*25delinsAGAGTTA...
XM_024452383.1:c.1171_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	XP_024308151.1:n.[c.1171_*25delinsAGAGTTA...
XM_024452384.1:c.1171_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	XP_024308152.1:n.[c.1171_*25delinsAGAGTTA...
NM_001110792.2:c.1486_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC MANE Select	NP_001104262.1:n.[c.1486_*25delinsAGAGTTA...
NM_001316337.2:c.1171_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	NP_001303266.1:n.[c.1171_*25delinsAGAGTTA...
NM_001369391.2:c.1171_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	NP_001356320.1:n.[c.1171_*25delinsAGAGTTA...
NM_001369392.2:c.1171_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	NP_001356321.1:n.[c.1171_*25delinsAGAGTTA...
NM_001369393.2:c.1171_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	NP_001356322.1:n.[c.1171_*25delinsAGAGTTA...
NM_001369394.1:c.1171_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	NP_001356323.1:n.[c.1171_*25delinsAGAGTTA...
NM_001369394.2:c.1171_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	NP_001356323.1:n.[c.1171_*25delinsAGAGTTA...
NM_001386137.1:c.781_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	NP_001373066.1:n.[c.781_*25delinsAGAGTTAG...
NM_001386138.1:c.781_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	NP_001373067.1:n.[c.781_*25delinsAGAGTTAG...
NM_001386139.1:c.781_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC	NP_001373068.1:n.[c.781_*25delinsAGAGTTAG...
NM_004992.4:c.1450_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC MANE Plus Clinical	NP_004983.1:n.[c.1450_*25delinsAGAGTTAGCT...