Canonical Allele Identifier: CA658761907

Gene: MECP2

Linked Data

• PubMed: PMID:28263302

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031142dup , CM000685.2:g.154031142dup	GRCh38
NC_000023.10:g.153296593dup , CM000685.1:g.153296593dup	GRCh37
NC_000023.9:g.152949787dup	NCBI36
NG_007107.2:g.110986dup
NG_007107.3:g.110962dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.686dup MANE Plus Clinical	ENSP00000301948.6:p.Pro230AlafsTer6
ENST00000453960.7:c.722dup MANE Select	ENSP00000395535.2:p.Pro242AlafsTer6
ENST00000637917.1:c.66-206dup
ENST00000303391.10:c.686dup	ENSP00000301948.6:p.Pro230AlafsTer6
ENST00000407218.5:c.*58dup	ENSP00000384865.2:n.*58dup
ENST00000453960.6:c.722dup	ENSP00000395535.2:p.Pro242AlafsTer6
ENST00000619732.4:c.686dup	ENSP00000480973.1:p.Pro230AlafsTer6
ENST00000622433.4:c.674dup	ENSP00000484470.1:p.Pro226AlafsTer6
ENST00000628176.2:c.*58dup	ENSP00000486978.1:n.*58dup
NM_001110792.1:c.722dup	NP_001104262.1:p.Pro242AlafsTer6
NM_001316337.1:c.407dup	NP_001303266.1:p.Pro137AlafsTer6
NM_004992.3:c.686dup	NP_004983.1:p.Pro230AlafsTer6
XM_005274681.3:c.686dup	XP_005274738.1:p.Pro230AlafsTer6
XM_005274682.3:c.407dup	XP_005274739.1:p.Pro137AlafsTer6
XM_005274683.3:c.407dup	XP_005274740.1:p.Pro137AlafsTer6
XM_006724819.2:c.17dup	XP_006724882.1:p.Pro7AlafsTer6
XM_011531166.1:c.407dup	XP_011529468.1:p.Pro137AlafsTer6
XM_006724819.3:c.17dup	XP_006724882.1:p.Pro7AlafsTer6
XM_011531166.2:c.407dup	XP_011529468.1:p.Pro137AlafsTer6
XM_024452383.1:c.407dup	XP_024308151.1:p.Pro137AlafsTer6
XM_024452384.1:c.407dup	XP_024308152.1:p.Pro137AlafsTer6
NM_001110792.2:c.722dup MANE Select	NP_001104262.1:p.Pro242AlafsTer6
NM_001316337.2:c.407dup	NP_001303266.1:p.Pro137AlafsTer6
NM_001369391.2:c.407dup	NP_001356320.1:p.Pro137AlafsTer6
NM_001369392.2:c.407dup	NP_001356321.1:p.Pro137AlafsTer6
NM_001369393.2:c.407dup	NP_001356322.1:p.Pro137AlafsTer6
NM_001369394.1:c.407dup	NP_001356323.1:p.Pro137AlafsTer6
NM_001369394.2:c.407dup	NP_001356323.1:p.Pro137AlafsTer6
NM_001386137.1:c.17dup	NP_001373066.1:p.Pro7AlafsTer6
NM_001386138.1:c.17dup	NP_001373067.1:p.Pro7AlafsTer6
NM_001386139.1:c.17dup	NP_001373068.1:p.Pro7AlafsTer6
NM_004992.4:c.686dup MANE Plus Clinical	NP_004983.1:p.Pro230AlafsTer6