Canonical Allele Identifier: CA2466570986
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031352_154031353delinsAC , CM000685.2:g.154031352_154031353delinsAC GRCh38
NC_000023.10:g.153296803_153296804delinsAC , CM000685.1:g.153296803_153296804delinsAC GRCh37
NC_000023.9:g.152949997_152949998delinsAC NCBI36
NG_007107.2:g.110775_110776delinsGT
NG_007107.3:g.110751_110752delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.475_476delinsGT MANE Plus Clinical ENSP00000301948.6:p.Val159=
ENST00000453960.7:c.511_512delinsGT MANE Select ENSP00000395535.2:p.Val171=
ENST00000637917.1:c.65+43_65+44delinsGT
ENST00000303391.10:c.475_476delinsGT ENSP00000301948.6:p.Val159=
ENST00000407218.5:c.468+43_468+44delinsGT ENSP00000384865.2:n.468+43_468+44delinsGT
ENST00000453960.6:c.511_512delinsGT ENSP00000395535.2:p.Val171=
ENST00000486506.5:n.2823_2824delinsGT
ENST00000611468.1:c.463_464delinsGT ENSP00000479736.1:p.Val155=
ENST00000619732.4:c.475_476delinsGT ENSP00000480973.1:p.Val159=
ENST00000622433.4:c.463_464delinsGT ENSP00000484470.1:p.Val155=
ENST00000628176.2:c.432+43_432+44delinsGT ENSP00000486978.1:n.432+43_432+44delinsGT
NM_001110792.1:c.511_512delinsGT NP_001104262.1:p.Val171=
NM_001316337.1:c.196_197delinsGT NP_001303266.1:p.Val66=
NM_004992.3:c.475_476delinsGT NP_004983.1:p.Val159=
XM_005274681.3:c.475_476delinsGT XP_005274738.1:p.Val159=
XM_005274682.3:c.196_197delinsGT XP_005274739.1:p.Val66=
XM_005274683.3:c.196_197delinsGT XP_005274740.1:p.Val66=
XM_006724819.2:c.-129+43_-129+44delinsGT XP_006724882.1:n.-129+43_-129+44delinsGT
XM_011531166.1:c.196_197delinsGT XP_011529468.1:p.Val66=
XM_006724819.3:c.-129+43_-129+44delinsGT XP_006724882.1:n.-129+43_-129+44delinsGT
XM_011531166.2:c.196_197delinsGT XP_011529468.1:p.Val66=
XM_024452383.1:c.196_197delinsGT XP_024308151.1:p.Val66=
XM_024452384.1:c.196_197delinsGT XP_024308152.1:p.Val66=
NM_001110792.2:c.511_512delinsGT MANE Select NP_001104262.1:p.Val171=
NM_001316337.2:c.196_197delinsGT NP_001303266.1:p.Val66=
NM_001369391.2:c.196_197delinsGT NP_001356320.1:p.Val66=
NM_001369392.2:c.196_197delinsGT NP_001356321.1:p.Val66=
NM_001369393.2:c.196_197delinsGT NP_001356322.1:p.Val66=
NM_001369394.1:c.196_197delinsGT NP_001356323.1:p.Val66=
NM_001369394.2:c.196_197delinsGT NP_001356323.1:p.Val66=
NM_001386137.1:c.-129+43_-129+44delinsGT NP_001373066.1:n.-129+43_-129+44delinsGT
NM_001386138.1:c.-129+43_-129+44delinsGT NP_001373067.1:n.-129+43_-129+44delinsGT
NM_001386139.1:c.-129+43_-129+44delinsGT NP_001373068.1:n.-129+43_-129+44delinsGT
NM_004992.4:c.475_476delinsGT MANE Plus Clinical NP_004983.1:p.Val159=