LDH info

Canonical Allele Identifier: CA232918
Gene: MECP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 143414
dbSNP Id: rs267608609

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030623_154030660del , CM000685.2:g.154030623_154030660del GRCh38
NC_000023.10:g.153296074_153296111del , CM000685.1:g.153296074_153296111del GRCh37
NC_000023.9:g.152949268_152949305del NCBI36
NG_007107.2:g.111470_111507del

Transcript Alleles

HGVS Amino-acid change
NM_001110792.1:c.1206_1243del VV NP_001104262.1:p.Pro403Ter
NM_001316337.1:c.891_928del VV NP_001303266.1:p.Pro298Ter
NM_004992.3:c.1170_1207del VV NP_004983.1:p.Pro391Ter
XM_005274681.3:c.1170_1207del XP_005274738.1:p.Pro391Ter
XM_005274682.3:c.891_928del XP_005274739.1:p.Pro298Ter
XM_005274683.3:c.891_928del XP_005274740.1:p.Pro298Ter
XM_006724819.2:c.501_538del XP_006724882.1:p.Pro168Ter
XM_011531166.1:c.891_928del XP_011529468.1:p.Pro298Ter
XM_006724819.3:c.501_538del XP_006724882.1:p.Pro168Ter
XM_011531166.2:c.891_928del XP_011529468.1:p.Pro298Ter
XM_024452383.1:c.891_928del XP_024308151.1:p.Pro298Ter
XM_024452384.1:c.891_928del XP_024308152.1:p.Pro298Ter
ENST00000303391.10:c.1170_1207del ENSP00000301948.6:p.Pro391Ter
ENST00000407218.5:c.*542_*579del ENSP00000384865.2:p.=
ENST00000453960.6:c.1206_1243del ENSP00000395535.2:p.Pro403Ter
ENST00000619732.4:c.1170_1207del ENSP00000480973.1:p.Pro391Ter
ENST00000628176.2:c.*542_*579del ENSP00000486978.1:p.=