LDH info

Canonical Allele Identifier: CA257283
Gene: LAMB3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14548
ClinVar RCV Id: RCV000015649
dbSNP Id: rs769151482

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209626876_209626877del , CM000663.2:g.209626876_209626877del GRCh38
NC_000001.10:g.209800221_209800222del , CM000663.1:g.209800221_209800222del GRCh37
NC_000001.9:g.207866844_207866845del NCBI36
NG_007116.1:g.30599_30600del

Transcript Alleles

HGVS Amino-acid change
NM_000228.2:c.1587_1588del VV NP_000219.2:p.Gly530MetfsTer5
NM_001017402.1:c.1587_1588del VV NP_001017402.1:p.Gly530MetfsTer5
NM_001127641.1:c.1587_1588del VV NP_001121113.1:p.Gly530MetfsTer5
XM_005273124.3:c.1587_1588del XP_005273181.1:p.Gly530MetfsTer5
XM_005273124.4:c.1587_1588del XP_005273181.1:p.Gly530MetfsTer5
XM_017001272.2:c.1395_1396del XP_016856761.1:p.Gly466MetfsTer5
NM_000228.3:c.1587_1588del VV MANE Preferred NP_000219.2:p.Gly530MetfsTer5
ENST00000356082.8:c.1587_1588del ENSP00000348384.3:p.Gly530MetfsTer5
ENST00000367030.7:c.1587_1588del ENSP00000355997.3:p.Gly530MetfsTer5
ENST00000391911.5:c.1587_1588del ENSP00000375778.1:p.Gly530MetfsTer5