LDH info

Canonical Allele Identifier: CA16619284
Gene: SLC37A4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 421900
ClinVar RCV Id: RCV000485927
dbSNP Id: rs1064795433

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119029226del , CM000673.2:g.119029226del GRCh38
NC_000011.9:g.118899936del , CM000673.1:g.118899936del GRCh37
NC_000011.8:g.118405146del NCBI36
NG_013331.1:g.6683del , LRG_187:g.6683del

Transcript Alleles

HGVS Amino-acid change
NM_001164277.1:c.146del , LRG_187t1:c.146del NP_001157749.1:p.Leu49TrpfsTer26
NM_001164278.1:c.146del VV NP_001157750.1:p.Leu49TrpfsTer26
NM_001164279.1:c.-172+168del VV NP_001157751.1:p.=
NM_001164280.1:c.146del VV NP_001157752.1:p.Leu49TrpfsTer26
NM_001467.5:c.146del VV NP_001458.1:p.Leu49TrpfsTer26
NM_001164278.2:c.146del VV NP_001157750.1:p.Leu49TrpfsTer26
NM_001164279.2:c.-172+168del VV NP_001157751.1:p.=
NM_001164280.2:c.146del VV NP_001157752.1:p.Leu49TrpfsTer26
NM_001467.6:c.146del VV NP_001458.1:p.Leu49TrpfsTer26
ENST00000330775.9:c.146del ENSP00000476242.2:p.Leu49TrpfsTer26
ENST00000357590.9:c.146del ENSP00000476176.2:p.Leu49TrpfsTer26
ENST00000524428.5:n.146del
ENST00000525039.5:n.569del
ENST00000525102.5:n.903del
ENST00000525372.5:n.146del
ENST00000525787.1:n.441del
ENST00000526626.6:n.341del
ENST00000527992.5:n.373del
ENST00000529510.5:n.164del
ENST00000530407.5:n.197+168del
ENST00000532085.1:n.1640del
ENST00000532888.6:n.341del
ENST00000534384.1:n.366del
ENST00000538950.5:c.-172+168del ENSP00000475991.2:p.=
ENST00000545985.5:c.146del ENSP00000475241.2:p.Leu49TrpfsTer26