Canonical Allele Identifier: CA270481
Gene: MECP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 143635
ClinVar RCV Id: RCV000133175
dbSNP Id: rs267608507

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031216_154031217delinsCT , CM000685.2:g.154031216_154031217delinsCT GRCh38
NC_000023.10:g.153296667_153296668delinsCT , CM000685.1:g.153296667_153296668delinsCT GRCh37
NC_000023.9:g.152949861_152949862delinsCT NCBI36
NG_007107.2:g.110911_110912delinsAG

Transcript Alleles

HGVS Amino-acid change
NM_001110792.1:c.647_648delinsAG VV NP_001104262.1:p.Ser216Ter
NM_001316337.1:c.332_333delinsAG VV NP_001303266.1:p.Ser111Ter
NM_004992.3:c.611_612delinsAG VV NP_004983.1:p.Ser204Ter
XM_005274681.3:c.611_612delinsAG XP_005274738.1:p.Ser204Ter
XM_005274682.3:c.332_333delinsAG XP_005274739.1:p.Ser111Ter
XM_005274683.3:c.332_333delinsAG XP_005274740.1:p.Ser111Ter
XM_006724819.2:c.-59_-58delinsAG XP_006724882.1:p.=
XM_011531166.1:c.332_333delinsAG XP_011529468.1:p.Ser111Ter
XM_006724819.3:c.-59_-58delinsAG XP_006724882.1:p.=
XM_011531166.2:c.332_333delinsAG XP_011529468.1:p.Ser111Ter
XM_024452383.1:c.332_333delinsAG XP_024308151.1:p.Ser111Ter
XM_024452384.1:c.332_333delinsAG XP_024308152.1:p.Ser111Ter
ENST00000303391.10:c.611_612delinsAG ENSP00000301948.6:p.Ser204Ter
ENST00000407218.5:c.538_539delinsAG ENSP00000384865.2:p.Gln180Arg
ENST00000453960.6:c.647_648delinsAG ENSP00000395535.2:p.Ser216Ter
ENST00000619732.4:c.611_612delinsAG ENSP00000480973.1:p.Ser204Ter
ENST00000622433.4:c.599_600delinsAG ENSP00000484470.1:p.Ser200Ter
ENST00000628176.2:c.502_503delinsAG ENSP00000486978.1:p.Gln168Arg