LDH info

Canonical Allele Identifier: CA270191
Gene: MECP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 143323
ClinVar RCV Id: RCV000132848
dbSNP Id: rs267608425

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032477_154032478del , CM000685.2:g.154032477_154032478del GRCh38
NC_000023.10:g.153297928_153297929del , CM000685.1:g.153297928_153297929del GRCh37
NC_000023.9:g.152951122_152951123del NCBI36
NG_007107.2:g.109651_109652del

Transcript Alleles

HGVS Amino-acid change
NM_001110792.1:c.143_144del VV NP_001104262.1:p.Lys48ArgfsTer8
NM_001316337.1:c.-173_-172del VV NP_001303266.1:p.=
NM_004992.3:c.107_108del VV NP_004983.1:p.Lys36ArgfsTer8
XM_005274681.3:c.107_108del XP_005274738.1:p.Lys36ArgfsTer8
XM_005274682.3:c.-173_-172del XP_005274739.1:p.=
XM_005274683.3:c.-173_-172del XP_005274740.1:p.=
XM_011531166.1:c.-173_-172del XP_011529468.1:p.=
XM_006724819.3:c.-454_-453del XP_006724882.1:p.=
XM_011531166.2:c.-173_-172del XP_011529468.1:p.=
XM_024452383.1:c.-173_-172del XP_024308151.1:p.=
XM_024452384.1:c.-173_-172del XP_024308152.1:p.=
ENST00000303391.10:c.107_108del ENSP00000301948.6:p.Lys36ArgfsTer8
ENST00000369957.5:c.*161_*162del ENSP00000358973.4:p.=
ENST00000407218.5:c.143_144del ENSP00000384865.2:p.Lys48ArgfsTer8
ENST00000415944.3:c.107_108del ENSP00000416267.1:p.Lys36ArgfsTer8
ENST00000453960.6:c.143_144del ENSP00000395535.2:p.Lys48ArgfsTer8
ENST00000460227.4:n.1256_1257del
ENST00000463644.5:n.1046_1047del
ENST00000481807.3:n.393_394del
ENST00000486506.5:n.2455_2456del
ENST00000488293.4:n.1156_1157del
ENST00000496908.5:n.238_239del
ENST00000611468.1:c.95_96del ENSP00000479736.1:p.Lys32ArgfsTer8
ENST00000619732.4:c.107_108del ENSP00000480973.1:p.Lys36ArgfsTer8
ENST00000622433.4:c.95_96del ENSP00000484470.1:p.Lys32ArgfsTer8
ENST00000625300.1:n.332_333del
ENST00000626422.2:n.817_818del
ENST00000628176.2:c.107_108del ENSP00000486978.1:p.Lys36ArgfsTer8
ENST00000630151.1:c.107_108del ENSP00000486089.1:p.Lys36ArgfsTer?
ENST00000631210.1:n.386_387del