Canonical Allele Identifier: CA2466594806
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154097664_154097665delinsAT , CM000685.2:g.154097664_154097665delinsAT GRCh38
NC_000023.10:g.153363121_153363122delinsAT , CM000685.1:g.153363121_153363122delinsAT GRCh37
NC_000023.9:g.153016315_153016316delinsAT NCBI36
NG_007107.2:g.44457_44458delinsAT
NG_007107.3:g.44439_44440delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.-160_-159delinsAT MANE Plus Clinical ENSP00000301948.6:n.-160_-159delinsAT
ENST00000453960.7:c.1_2delinsAT MANE Select ENSP00000395535.2:p.Met1=
ENST00000303391.10:c.-160_-159delinsAT ENSP00000301948.6:n.-160_-159delinsAT
ENST00000407218.5:c.1_2delinsAT ENSP00000384865.2:p.Met1=
ENST00000453960.6:c.1_2delinsAT ENSP00000395535.2:p.Met1=
ENST00000619732.4:c.-160_-159delinsAT ENSP00000480973.1:n.-160_-159delinsAT
ENST00000627864.1:n.16_17delinsAT
ENST00000628176.2:c.-160_-159delinsAT ENSP00000486978.1:n.-160_-159delinsAT
ENST00000631210.1:n.305+7116_305+7117delinsAT
NM_001110792.1:c.1_2delinsAT NP_001104262.1:p.Met1=
NM_001316337.1:c.-607_-606delinsAT NP_001303266.1:n.-607_-606delinsAT
NM_004992.3:c.-160_-159delinsAT NP_004983.1:n.-160_-159delinsAT
XM_005274682.3:c.-551_-550delinsAT XP_005274739.1:n.-551_-550delinsAT
NM_001110792.2:c.1_2delinsAT MANE Select NP_001104262.1:p.Met1=
NM_001316337.2:c.-607_-606delinsAT NP_001303266.1:n.-607_-606delinsAT
NM_001369391.2:c.-902_-901delinsAT NP_001356320.1:n.-902_-901delinsAT
NM_001369392.2:c.-551_-550delinsAT NP_001356321.1:n.-551_-550delinsAT
NM_001369393.2:c.-427_-426delinsAT NP_001356322.1:n.-427_-426delinsAT
NM_001386137.1:c.-832_-831delinsAT NP_001373066.1:n.-832_-831delinsAT
NM_001386138.1:c.-720_-719delinsAT NP_001373067.1:n.-720_-719delinsAT
NM_001386139.1:c.-596_-595delinsAT NP_001373068.1:n.-596_-595delinsAT
NM_004992.4:c.-160_-159delinsAT MANE Plus Clinical NP_004983.1:n.-160_-159delinsAT