LDH info

Canonical Allele Identifier: CA16042036
Gene: ARSA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370945
ClinVar RCV Id: RCV000411535
dbSNP Id: rs1057516887

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50626151_50626154del , CM000684.2:g.50626151_50626154del GRCh38
NC_000022.10:g.51064579_51064582del , CM000684.1:g.51064579_51064582del GRCh37
NC_000022.9:g.49411445_49411448del NCBI36
NG_009260.2:g.7025_7028del

Transcript Alleles

HGVS Amino-acid change
NM_000487.5:c.978_979+2del VV
NM_001085425.2:c.978_979+2del VV
NM_001085426.2:c.978_979+2del VV
NM_001085427.2:c.978_979+2del VV
NM_001085428.2:c.720_721+2del VV
XM_011530690.1:c.720_721+2del
XM_011530691.1:c.978_979+2del
NM_001362782.1:c.720_721+2del VV
XM_011530691.3:c.978_979+2del
XM_017028800.1:c.978_979+2del
XM_024452241.1:c.978_979+2del
NM_000487.6:c.978_979+2del VV MANE Preferred
NM_001085425.3:c.978_979+2del VV
NM_001085426.3:c.978_979+2del VV
NM_001085427.3:c.978_979+2del VV
NM_001085428.3:c.720_721+2del VV
NM_001362782.2:c.720_721+2del VV
ENST00000216124.9:c.978_979+2del
ENST00000356098.9:c.978_979+2del
ENST00000395619.3:c.978_979+2del
ENST00000395621.7:c.978_979+2del
ENST00000453344.6:c.720_721+2del