LDH info

Canonical Allele Identifier: CA252488
Gene: USH1G HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2915
ClinVar RCV Id: RCV000003049
dbSNP Id: rs730880268

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920649_74920650del , CM000679.2:g.74920649_74920650del GRCh38
NC_000017.10:g.72916744_72916745del , CM000679.1:g.72916744_72916745del GRCh37
NC_000017.9:g.70428339_70428340del NCBI36
NG_007882.1:g.7606_7607del
NG_033062.1:g.1375_1376del
NG_007882.2:g.7613_7614del
NG_033062.2:g.1375_1376del

Transcript Alleles

HGVS Amino-acid change
NM_001282489.2:c.-92-33_-92-32del VV NP_001269418.1:p.=
NM_173477.4:c.185_186del VV NP_775748.2:p.Ile63LeufsTer?
XM_011524296.1:c.-125_-124del XP_011522598.1:p.=
XM_011524296.2:c.-125_-124del XP_011522598.1:p.=
NM_173477.5:c.185_186del VV MANE Preferred NP_775748.2:p.Ile63LeufsTer?
NM_001282489.3:c.-92-33_-92-32del VV NP_001269418.1:p.=
ENST00000579243.1:c.165-33_165-32del ENSP00000462568.1:p.=
ENST00000614341.4:c.185_186del ENSP00000480279.1:p.Ile63LeufsTer?