LDH info

Canonical Allele Identifier: CA915940579
Gene: MN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 812564
ClinVar RCV Id: RCV001003399
dbSNP Id: rs1601319584

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27751029_27751032del , CM000684.2:g.27751029_27751032del GRCh38
NC_000022.10:g.28147017_28147020del , CM000684.1:g.28147017_28147020del GRCh37
NC_000022.9:g.26477017_26477020del NCBI36
NG_023258.1:g.55462_55465del

Transcript Alleles

HGVS Amino-acid change
NM_002430.2:c.3841_3844del VV NP_002421.3:p.Val1283ThrfsTer?
NM_002430.3:c.3841_3844del VV MANE Preferred NP_002421.3:p.Val1283ThrfsTer?
ENST00000302326.4:c.3841_3844del ENSP00000304956.4:p.Val1283ThrfsTer?
ENST00000424656.1:n.194_197del
ENST00000497225.1:n.197_200del