LDH info

Canonical Allele Identifier: CA274543
Gene: MECP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 143433
dbSNP Id: rs267608428

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032466_154032467del , CM000685.2:g.154032466_154032467del GRCh38
NC_000023.10:g.153297917_153297918del , CM000685.1:g.153297917_153297918del GRCh37
NC_000023.9:g.152951111_152951112del NCBI36
NG_007107.2:g.109663_109664del

Transcript Alleles

HGVS Amino-acid change
NM_001110792.1:c.155_156del VV NP_001104262.1:p.Glu52GlyfsTer4
NM_001316337.1:c.-161_-160del VV NP_001303266.1:p.=
NM_004992.3:c.119_120del VV NP_004983.1:p.Glu40GlyfsTer4
XM_005274681.3:c.119_120del XP_005274738.1:p.Glu40GlyfsTer4
XM_005274682.3:c.-161_-160del XP_005274739.1:p.=
XM_005274683.3:c.-161_-160del XP_005274740.1:p.=
XM_011531166.1:c.-161_-160del XP_011529468.1:p.=
XM_006724819.3:c.-442_-441del XP_006724882.1:p.=
XM_011531166.2:c.-161_-160del XP_011529468.1:p.=
XM_024452383.1:c.-161_-160del XP_024308151.1:p.=
XM_024452384.1:c.-161_-160del XP_024308152.1:p.=
ENST00000303391.10:c.119_120del ENSP00000301948.6:p.Glu40GlyfsTer4
ENST00000369957.5:c.*173_*174del ENSP00000358973.4:p.=
ENST00000407218.5:c.155_156del ENSP00000384865.2:p.Glu52GlyfsTer4
ENST00000415944.3:c.119_120del ENSP00000416267.1:p.Glu40GlyfsTer4
ENST00000453960.6:c.155_156del ENSP00000395535.2:p.Glu52GlyfsTer4
ENST00000460227.4:n.1268_1269del
ENST00000463644.5:n.1058_1059del
ENST00000481807.3:n.405_406del
ENST00000486506.5:n.2467_2468del
ENST00000488293.4:n.1168_1169del
ENST00000496908.5:n.250_251del
ENST00000611468.1:c.107_108del ENSP00000479736.1:p.Glu36GlyfsTer4
ENST00000619732.4:c.119_120del ENSP00000480973.1:p.Glu40GlyfsTer4
ENST00000622433.4:c.107_108del ENSP00000484470.1:p.Glu36GlyfsTer4
ENST00000625300.1:n.344_345del
ENST00000626422.2:n.829_830del
ENST00000628176.2:c.119_120del ENSP00000486978.1:p.Glu40GlyfsTer4
ENST00000630151.1:c.119_120del ENSP00000486089.1:p.Glu40GlyfsTer?
ENST00000631210.1:n.398_399del