Canonical Allele Identifier: CA2466571010
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031388_154031389delinsTC , CM000685.2:g.154031388_154031389delinsTC GRCh38
NC_000023.10:g.153296839_153296840delinsTC , CM000685.1:g.153296839_153296840delinsTC GRCh37
NC_000023.9:g.152950033_152950034delinsTC NCBI36
NG_007107.2:g.110739_110740delinsGA
NG_007107.3:g.110715_110716delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.439_440delinsGA MANE Plus Clinical ENSP00000301948.6:p.Asp147=
ENST00000453960.7:c.475_476delinsGA MANE Select ENSP00000395535.2:p.Asp159=
ENST00000637917.1:c.65+7_65+8delinsGA
ENST00000303391.10:c.439_440delinsGA ENSP00000301948.6:p.Asp147=
ENST00000369957.5:c.*493_*494delinsGA ENSP00000358973.4:n.*493_*494delinsGA
ENST00000407218.5:c.468+7_468+8delinsGA ENSP00000384865.2:n.468+7_468+8delinsGA
ENST00000453960.6:c.475_476delinsGA ENSP00000395535.2:p.Asp159=
ENST00000486506.5:n.2787_2788delinsGA
ENST00000611468.1:c.427_428delinsGA ENSP00000479736.1:p.Asp143=
ENST00000619732.4:c.439_440delinsGA ENSP00000480973.1:p.Asp147=
ENST00000622433.4:c.427_428delinsGA ENSP00000484470.1:p.Asp143=
ENST00000628176.2:c.432+7_432+8delinsGA ENSP00000486978.1:n.432+7_432+8delinsGA
NM_001110792.1:c.475_476delinsGA NP_001104262.1:p.Asp159=
NM_001316337.1:c.160_161delinsGA NP_001303266.1:p.Asp54=
NM_004992.3:c.439_440delinsGA NP_004983.1:p.Asp147=
XM_005274681.3:c.439_440delinsGA XP_005274738.1:p.Asp147=
XM_005274682.3:c.160_161delinsGA XP_005274739.1:p.Asp54=
XM_005274683.3:c.160_161delinsGA XP_005274740.1:p.Asp54=
XM_006724819.2:c.-129+7_-129+8delinsGA XP_006724882.1:n.-129+7_-129+8delinsGA
XM_011531166.1:c.160_161delinsGA XP_011529468.1:p.Asp54=
XM_006724819.3:c.-129+7_-129+8delinsGA XP_006724882.1:n.-129+7_-129+8delinsGA
XM_011531166.2:c.160_161delinsGA XP_011529468.1:p.Asp54=
XM_024452383.1:c.160_161delinsGA XP_024308151.1:p.Asp54=
XM_024452384.1:c.160_161delinsGA XP_024308152.1:p.Asp54=
NM_001110792.2:c.475_476delinsGA MANE Select NP_001104262.1:p.Asp159=
NM_001316337.2:c.160_161delinsGA NP_001303266.1:p.Asp54=
NM_001369391.2:c.160_161delinsGA NP_001356320.1:p.Asp54=
NM_001369392.2:c.160_161delinsGA NP_001356321.1:p.Asp54=
NM_001369393.2:c.160_161delinsGA NP_001356322.1:p.Asp54=
NM_001369394.1:c.160_161delinsGA NP_001356323.1:p.Asp54=
NM_001369394.2:c.160_161delinsGA NP_001356323.1:p.Asp54=
NM_001386137.1:c.-129+7_-129+8delinsGA NP_001373066.1:n.-129+7_-129+8delinsGA
NM_001386138.1:c.-129+7_-129+8delinsGA NP_001373067.1:n.-129+7_-129+8delinsGA
NM_001386139.1:c.-129+7_-129+8delinsGA NP_001373068.1:n.-129+7_-129+8delinsGA
NM_004992.4:c.439_440delinsGA MANE Plus Clinical NP_004983.1:p.Asp147=