Canonical Allele Identifier: CA2573055157
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331632
ClinVar RCV Id: RCV001806976
dbSNP Id: rs2148666395

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032232_154032235delinsAGGA , CM000685.2:g.154032232_154032235delinsAGGA GRCh38
NC_000023.10:g.153297683_153297686delinsAGGA , CM000685.1:g.153297683_153297686delinsAGGA GRCh37
NC_000023.9:g.152950877_152950880delinsAGGA NCBI36
NG_007107.2:g.109893_109896delinsTCCT
NG_007107.3:g.109869_109872delinsTCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.349_352delinsTCCT MANE Plus Clinical ENSP00000301948.6:p.Ala117_Gly118delinsSerTrp
ENST00000453960.7:c.385_388delinsTCCT MANE Select ENSP00000395535.2:p.Ala129_Gly130delinsSerTrp
ENST00000303391.10:c.349_352delinsTCCT ENSP00000301948.6:p.Ala117_Gly118delinsSerTrp
ENST00000369957.5:c.*403_*406delinsTCCT ENSP00000358973.4:n.*403_*406delinsTCCT
ENST00000407218.5:c.385_388delinsTCCT ENSP00000384865.2:p.Ala129_Gly130delinsSerTrp
ENST00000453960.6:c.385_388delinsTCCT ENSP00000395535.2:p.Ala129_Gly130delinsSerTrp
ENST00000486506.5:n.2697_2700delinsTCCT
ENST00000611468.1:c.337_340delinsTCCT ENSP00000479736.1:p.Ala113_Gly114delinsSerTrp
ENST00000619732.4:c.349_352delinsTCCT ENSP00000480973.1:p.Ala117_Gly118delinsSerTrp
ENST00000622433.4:c.337_340delinsTCCT ENSP00000484470.1:p.Ala113_Gly114delinsSerTrp
ENST00000628176.2:c.349_352delinsTCCT ENSP00000486978.1:p.Ala117_Gly118delinsSerTrp
NM_001110792.1:c.385_388delinsTCCT NP_001104262.1:p.Ala129_Gly130delinsSerTrp
NM_001316337.1:c.70_73delinsTCCT NP_001303266.1:p.Ala24_Gly25delinsSerTrp
NM_004992.3:c.349_352delinsTCCT NP_004983.1:p.Ala117_Gly118delinsSerTrp
XM_005274681.3:c.349_352delinsTCCT XP_005274738.1:p.Ala117_Gly118delinsSerTrp
XM_005274682.3:c.70_73delinsTCCT XP_005274739.1:p.Ala24_Gly25delinsSerTrp
XM_005274683.3:c.70_73delinsTCCT XP_005274740.1:p.Ala24_Gly25delinsSerTrp
XM_011531166.1:c.70_73delinsTCCT XP_011529468.1:p.Ala24_Gly25delinsSerTrp
XM_006724819.3:c.-212_-209delinsTCCT XP_006724882.1:n.-212_-209delinsTCCT
XM_011531166.2:c.70_73delinsTCCT XP_011529468.1:p.Ala24_Gly25delinsSerTrp
XM_024452383.1:c.70_73delinsTCCT XP_024308151.1:p.Ala24_Gly25delinsSerTrp
XM_024452384.1:c.70_73delinsTCCT XP_024308152.1:p.Ala24_Gly25delinsSerTrp
NM_001110792.2:c.385_388delinsTCCT MANE Select NP_001104262.1:p.Ala129_Gly130delinsSerTrp
NM_001316337.2:c.70_73delinsTCCT NP_001303266.1:p.Ala24_Gly25delinsSerTrp
NM_001369391.2:c.70_73delinsTCCT NP_001356320.1:p.Ala24_Gly25delinsSerTrp
NM_001369392.2:c.70_73delinsTCCT NP_001356321.1:p.Ala24_Gly25delinsSerTrp
NM_001369393.2:c.70_73delinsTCCT NP_001356322.1:p.Ala24_Gly25delinsSerTrp
NM_001369394.1:c.70_73delinsTCCT NP_001356323.1:p.Ala24_Gly25delinsSerTrp
NM_001369394.2:c.70_73delinsTCCT NP_001356323.1:p.Ala24_Gly25delinsSerTrp
NM_001386137.1:c.-212_-209delinsTCCT NP_001373066.1:n.-212_-209delinsTCCT
NM_001386138.1:c.-212_-209delinsTCCT NP_001373067.1:n.-212_-209delinsTCCT
NM_001386139.1:c.-212_-209delinsTCCT NP_001373068.1:n.-212_-209delinsTCCT
NM_004992.4:c.349_352delinsTCCT MANE Plus Clinical NP_004983.1:p.Ala117_Gly118delinsSerTrp