LDH info

Canonical Allele Identifier: CA10582409
Gene: SH3TC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 241502
ClinVar RCV Id: RCV000227528
dbSNP Id: rs878855092

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149027645_149027663del , CM000667.2:g.149027645_149027663del GRCh38
NC_000005.9:g.148407208_148407226del , CM000667.1:g.148407208_148407226del GRCh37
NC_000005.8:g.148387401_148387419del NCBI36
NG_007947.2:g.40515_40533del , LRG_269:g.40515_40533del

Transcript Alleles

HGVS Amino-acid change
NM_024577.3:c.2072_2090del , LRG_269t1:c.2072_2090del NP_078853.2:p.Ala691ValfsTer?
ENST00000323829.9:c.*1460_*1478del ENSP00000313025.5:p.=
ENST00000504517.5:n.1602_1620del ENSP00000421779.1:p.=
ENST00000504690.5:c.2072_2090del ENSP00000425627.1:p.Ala691ValfsTer?
ENST00000510779.1:n.1122_1140del
ENST00000511307.5:c.*1852_*1870del ENSP00000421420.1:p.=
ENST00000512049.5:c.2051_2069del ENSP00000421860.1:p.Ala684ValfsTer?
ENST00000513604.5:c.*1460_*1478del ENSP00000423111.1:p.=
ENST00000515425.5:c.2072_2090del ENSP00000423660.1:p.Ala691ValfsTer?