LDH info

Canonical Allele Identifier: CA270213
Gene: MECP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 143354
ClinVar RCV Id: RCV000132880
dbSNP Id: rs267608372

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030635_154030678del , CM000685.2:g.154030635_154030678del GRCh38
NC_000023.10:g.153296086_153296129del , CM000685.1:g.153296086_153296129del GRCh37
NC_000023.9:g.152949280_152949323del NCBI36
NG_007107.2:g.111452_111495del

Transcript Alleles

HGVS Amino-acid change
NM_001110792.1:c.1188_1231del VV NP_001104262.1:p.Pro397HisfsTer5
NM_001316337.1:c.873_916del VV NP_001303266.1:p.Pro292HisfsTer5
NM_004992.3:c.1152_1195del VV NP_004983.1:p.Pro385HisfsTer5
XM_005274681.3:c.1152_1195del XP_005274738.1:p.Pro385HisfsTer5
XM_005274682.3:c.873_916del XP_005274739.1:p.Pro292HisfsTer5
XM_005274683.3:c.873_916del XP_005274740.1:p.Pro292HisfsTer5
XM_006724819.2:c.483_526del XP_006724882.1:p.Pro162HisfsTer5
XM_011531166.1:c.873_916del XP_011529468.1:p.Pro292HisfsTer5
XM_006724819.3:c.483_526del XP_006724882.1:p.Pro162HisfsTer5
XM_011531166.2:c.873_916del XP_011529468.1:p.Pro292HisfsTer5
XM_024452383.1:c.873_916del XP_024308151.1:p.Pro292HisfsTer5
XM_024452384.1:c.873_916del XP_024308152.1:p.Pro292HisfsTer5
ENST00000303391.10:c.1152_1195del ENSP00000301948.6:p.Pro385HisfsTer5
ENST00000407218.5:c.*524_*567del ENSP00000384865.2:p.=
ENST00000453960.6:c.1188_1231del ENSP00000395535.2:p.Pro397HisfsTer5
ENST00000619732.4:c.1152_1195del ENSP00000480973.1:p.Pro385HisfsTer5
ENST00000628176.2:c.*524_*567del ENSP00000486978.1:p.=