LDH info

Canonical Allele Identifier: CA199318
Gene: MECP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 143369
dbSNP Id: rs267608327

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030636_154030676del , CM000685.2:g.154030636_154030676del GRCh38
NC_000023.10:g.153296087_153296127del , CM000685.1:g.153296087_153296127del GRCh37
NC_000023.9:g.152949281_152949321del NCBI36
NG_007107.2:g.111457_111497del

Transcript Alleles

HGVS Amino-acid change
NM_001110792.1:c.1193_1233del VV NP_001104262.1:p.Leu398HisfsTer5
NM_001316337.1:c.878_918del VV NP_001303266.1:p.Leu293HisfsTer5
NM_004992.3:c.1157_1197del VV NP_004983.1:p.Leu386HisfsTer5
XM_005274681.3:c.1157_1197del XP_005274738.1:p.Leu386HisfsTer5
XM_005274682.3:c.878_918del XP_005274739.1:p.Leu293HisfsTer5
XM_005274683.3:c.878_918del XP_005274740.1:p.Leu293HisfsTer5
XM_006724819.2:c.488_528del XP_006724882.1:p.Leu163HisfsTer5
XM_011531166.1:c.878_918del XP_011529468.1:p.Leu293HisfsTer5
XM_006724819.3:c.488_528del XP_006724882.1:p.Leu163HisfsTer5
XM_011531166.2:c.878_918del XP_011529468.1:p.Leu293HisfsTer5
XM_024452383.1:c.878_918del XP_024308151.1:p.Leu293HisfsTer5
XM_024452384.1:c.878_918del XP_024308152.1:p.Leu293HisfsTer5
ENST00000303391.10:c.1157_1197del ENSP00000301948.6:p.Leu386HisfsTer5
ENST00000407218.5:c.*529_*569del ENSP00000384865.2:p.=
ENST00000453960.6:c.1193_1233del ENSP00000395535.2:p.Leu398HisfsTer5
ENST00000619732.4:c.1157_1197del ENSP00000480973.1:p.Leu386HisfsTer5
ENST00000628176.2:c.*529_*569del ENSP00000486978.1:p.=