LDH info

Canonical Allele Identifier: CA915940579
Gene: MN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27751034_27751037del , CM000684.2:g.27751034_27751037del GRCh38
NC_000022.10:g.28147022_28147025del , CM000684.1:g.28147022_28147025del GRCh37
NC_000022.9:g.26477022_26477025del NCBI36
NG_023258.1:g.55467_55470del

Transcript Alleles

HGVS Amino-acid change
NM_002430.2:c.3846_3849del VV NP_002421.3:p.Val1283ThrfsTer?
NM_002430.3:c.3846_3849del VV MANE Preferred NP_002421.3:p.Val1283ThrfsTer?
ENST00000302326.4:c.3846_3849del ENSP00000304956.4:p.Val1283ThrfsTer?
ENST00000424656.1:n.199_202del
ENST00000497225.1:n.202_205del