LDH info

Canonical Allele Identifier: CA270457
Gene: MECP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 143605
ClinVar RCV Id: RCV000133145
dbSNP Id: rs267608416

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032534dup , CM000685.2:g.154032534dup GRCh38
NC_000023.10:g.153297985dup , CM000685.1:g.153297985dup GRCh37
NC_000023.9:g.152951179dup NCBI36
NG_007107.2:g.109594dup

Transcript Alleles

HGVS Amino-acid change
NM_001110792.1:c.86dup VV NP_001104262.1:p.Asp29GlufsTer13
NM_001316337.1:c.-230dup VV NP_001303266.1:p.=
NM_004992.3:c.50dup VV NP_004983.1:p.Asp17GlufsTer13
XM_005274681.3:c.50dup XP_005274738.1:p.Asp17GlufsTer13
XM_005274682.3:c.-230dup XP_005274739.1:p.=
XM_005274683.3:c.-230dup XP_005274740.1:p.=
XM_011531166.1:c.-230dup XP_011529468.1:p.=
XM_006724819.3:c.-511dup XP_006724882.1:p.=
XM_011531166.2:c.-230dup XP_011529468.1:p.=
XM_024452383.1:c.-230dup XP_024308151.1:p.=
XM_024452384.1:c.-230dup XP_024308152.1:p.=
ENST00000303391.10:c.50dup ENSP00000301948.6:p.Asp17GlufsTer13
ENST00000369957.5:c.*104dup ENSP00000358973.4:p.=
ENST00000407218.5:c.86dup ENSP00000384865.2:p.Asp29GlufsTer13
ENST00000415944.3:c.50dup ENSP00000416267.1:p.Asp17GlufsTer13
ENST00000453960.6:c.86dup ENSP00000395535.2:p.Asp29GlufsTer13
ENST00000460227.4:n.1199dup
ENST00000463644.5:n.989dup
ENST00000481807.3:n.336dup
ENST00000486506.5:n.2398dup
ENST00000488293.4:n.1099dup
ENST00000496908.5:n.181dup
ENST00000611468.1:c.38dup ENSP00000479736.1:p.Asp13GlufsTer13
ENST00000619732.4:c.50dup ENSP00000480973.1:p.Asp17GlufsTer13
ENST00000622433.4:c.38dup ENSP00000484470.1:p.Asp13GlufsTer13
ENST00000625300.1:n.275dup
ENST00000626422.2:n.760dup
ENST00000628176.2:c.50dup ENSP00000486978.1:p.Asp17GlufsTer13
ENST00000630151.1:c.50dup ENSP00000486089.1:p.Asp17GlufsTer13
ENST00000631210.1:n.329dup