Canonical Allele Identifier: CA2466570990

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031356_154031358delinsTGA , CM000685.2:g.154031356_154031358delinsTGA	GRCh38
NC_000023.10:g.153296807_153296809delinsTGA , CM000685.1:g.153296807_153296809delinsTGA	GRCh37
NC_000023.9:g.152950001_152950003delinsTGA	NCBI36
NG_007107.2:g.110770_110772delinsTCA
NG_007107.3:g.110746_110748delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.470_472delinsTCA MANE Plus Clinical	ENSP00000301948.6:p.Phe157=
ENST00000453960.7:c.506_508delinsTCA MANE Select	ENSP00000395535.2:p.Phe169=
ENST00000637917.1:c.65+38_65+40delinsTCA
ENST00000303391.10:c.470_472delinsTCA	ENSP00000301948.6:p.Phe157=
ENST00000407218.5:c.468+38_468+40delinsTCA	ENSP00000384865.2:n.468+38_468+40delinsTCA
ENST00000453960.6:c.506_508delinsTCA	ENSP00000395535.2:p.Phe169=
ENST00000486506.5:n.2818_2820delinsTCA
ENST00000611468.1:c.458_460delinsTCA	ENSP00000479736.1:p.Phe153=
ENST00000619732.4:c.470_472delinsTCA	ENSP00000480973.1:p.Phe157=
ENST00000622433.4:c.458_460delinsTCA	ENSP00000484470.1:p.Phe153=
ENST00000628176.2:c.432+38_432+40delinsTCA	ENSP00000486978.1:n.432+38_432+40delinsTCA
NM_001110792.1:c.506_508delinsTCA	NP_001104262.1:p.Phe169=
NM_001316337.1:c.191_193delinsTCA	NP_001303266.1:p.Phe64=
NM_004992.3:c.470_472delinsTCA	NP_004983.1:p.Phe157=
XM_005274681.3:c.470_472delinsTCA	XP_005274738.1:p.Phe157=
XM_005274682.3:c.191_193delinsTCA	XP_005274739.1:p.Phe64=
XM_005274683.3:c.191_193delinsTCA	XP_005274740.1:p.Phe64=
XM_006724819.2:c.-129+38_-129+40delinsTCA	XP_006724882.1:n.-129+38_-129+40delinsTCA
XM_011531166.1:c.191_193delinsTCA	XP_011529468.1:p.Phe64=
XM_006724819.3:c.-129+38_-129+40delinsTCA	XP_006724882.1:n.-129+38_-129+40delinsTCA
XM_011531166.2:c.191_193delinsTCA	XP_011529468.1:p.Phe64=
XM_024452383.1:c.191_193delinsTCA	XP_024308151.1:p.Phe64=
XM_024452384.1:c.191_193delinsTCA	XP_024308152.1:p.Phe64=
NM_001110792.2:c.506_508delinsTCA MANE Select	NP_001104262.1:p.Phe169=
NM_001316337.2:c.191_193delinsTCA	NP_001303266.1:p.Phe64=
NM_001369391.2:c.191_193delinsTCA	NP_001356320.1:p.Phe64=
NM_001369392.2:c.191_193delinsTCA	NP_001356321.1:p.Phe64=
NM_001369393.2:c.191_193delinsTCA	NP_001356322.1:p.Phe64=
NM_001369394.1:c.191_193delinsTCA	NP_001356323.1:p.Phe64=
NM_001369394.2:c.191_193delinsTCA	NP_001356323.1:p.Phe64=
NM_001386137.1:c.-129+38_-129+40delinsTCA	NP_001373066.1:n.-129+38_-129+40delinsTCA
NM_001386138.1:c.-129+38_-129+40delinsTCA	NP_001373067.1:n.-129+38_-129+40delinsTCA
NM_001386139.1:c.-129+38_-129+40delinsTCA	NP_001373068.1:n.-129+38_-129+40delinsTCA
NM_004992.4:c.470_472delinsTCA MANE Plus Clinical	NP_004983.1:p.Phe157=