LDH info

Canonical Allele Identifier: CA256091
Gene: MECP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11818
dbSNP Id: rs267608434

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032417_154032418del , CM000685.2:g.154032417_154032418del GRCh38
NC_000023.10:g.153297868_153297869del , CM000685.1:g.153297868_153297869del GRCh37
NC_000023.9:g.152951062_152951063del NCBI36
NG_007107.2:g.109711_109712del

Transcript Alleles

HGVS Amino-acid change
NM_001110792.1:c.203_204del VV NP_001104262.1:p.Pro68ArgfsTer?
NM_001316337.1:c.-113_-112del VV NP_001303266.1:p.=
NM_004992.3:c.167_168del VV NP_004983.1:p.Pro56ArgfsTer?
XM_005274681.3:c.167_168del XP_005274738.1:p.Pro56ArgfsTer?
XM_005274682.3:c.-113_-112del XP_005274739.1:p.=
XM_005274683.3:c.-113_-112del XP_005274740.1:p.=
XM_011531166.1:c.-113_-112del XP_011529468.1:p.=
XM_006724819.3:c.-394_-393del XP_006724882.1:p.=
XM_011531166.2:c.-113_-112del XP_011529468.1:p.=
XM_024452383.1:c.-113_-112del XP_024308151.1:p.=
XM_024452384.1:c.-113_-112del XP_024308152.1:p.=
ENST00000303391.10:c.167_168del ENSP00000301948.6:p.Pro56ArgfsTer?
ENST00000369957.5:c.*221_*222del ENSP00000358973.4:p.=
ENST00000407218.5:c.203_204del ENSP00000384865.2:p.Pro68ArgfsTer?
ENST00000453960.6:c.203_204del ENSP00000395535.2:p.Pro68ArgfsTer?
ENST00000486506.5:n.2515_2516del
ENST00000496908.5:n.298_299del
ENST00000611468.1:c.155_156del ENSP00000479736.1:p.Pro52ArgfsTer?
ENST00000619732.4:c.167_168del ENSP00000480973.1:p.Pro56ArgfsTer?
ENST00000622433.4:c.155_156del ENSP00000484470.1:p.Pro52ArgfsTer?
ENST00000628176.2:c.167_168del ENSP00000486978.1:p.Pro56ArgfsTer?
ENST00000631210.1:n.446_447del