LDH info

Canonical Allele Identifier: CA191452
Gene: MRE11A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 185250
ClinVar RCV Id: RCV000164635
dbSNP Id: rs786202032

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94471596_94471598delinsT , CM000673.2:g.94471596_94471598delinsT GRCh38
NC_000011.9:g.94204762_94204764delinsT , CM000673.1:g.94204762_94204764delinsT GRCh37
NC_000011.8:g.93844410_93844412delinsT NCBI36
NG_007261.1:g.27277_27279delinsA , LRG_85:g.27277_27279delinsA

Transcript Alleles

HGVS Amino-acid change
NM_005590.3:c.821_823delinsA VV NP_005581.2:p.Leu274HisfsTer16
NM_005591.3:c.821_823delinsA , LRG_85t1:c.821_823delinsA NP_005582.1:p.Leu274HisfsTer16
XM_005274008.2:c.353_355delinsA XP_005274065.1:p.Leu118HisfsTer16
XM_006718842.2:c.821_823delinsA XP_006718905.1:p.Leu274HisfsTer16
XM_011542837.1:c.821_823delinsA XP_011541139.1:p.Leu274HisfsTer16
XR_947828.1:n.1117_1119delinsA
NM_001330347.1:c.821_823delinsA VV NP_001317276.1:p.Leu274HisfsTer16
XM_005274008.3:c.353_355delinsA XP_005274065.1:p.Leu118HisfsTer16
XM_006718842.3:c.821_823delinsA XP_006718905.1:p.Leu274HisfsTer16
XM_011542837.2:c.821_823delinsA XP_011541139.1:p.Leu274HisfsTer16
XM_017017772.1:c.821_823delinsA XP_016873261.1:p.Leu274HisfsTer16
XR_947828.2:n.1117_1119delinsA
ENST00000323929.7:c.821_823delinsA ENSP00000325863.3:p.Leu274HisfsTer16
ENST00000323977.7:c.821_823delinsA ENSP00000326094.3:p.Leu274HisfsTer16
ENST00000393241.8:c.821_823delinsA ENSP00000376933.4:p.Leu274HisfsTer16
ENST00000407439.7:c.830_832delinsA ENSP00000385614.3:p.Leu277HisfsTer16