LDH info

Canonical Allele Identifier: CA341294
Gene: JUP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13600
ClinVar RCV Id: RCV000014570
dbSNP Id: rs113994176

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41771742_41771744dup , CM000679.2:g.41771742_41771744dup GRCh38
NC_000017.10:g.39927994_39927996dup , CM000679.1:g.39927994_39927996dup GRCh37
NC_000017.9:g.37181520_37181522dup NCBI36
NG_009090.2:g.19974_19976dup , LRG_401:g.19974_19976dup

Transcript Alleles

HGVS Amino-acid change
NM_002230.2:c.116_118dup , LRG_401t2:c.116_118dup NP_002221.1:p.Ser39_Lys40insSer
NM_021991.2:c.116_118dup , LRG_401t1:c.116_118dup NP_068831.1:p.Ser39_Lys40insSer
XM_006721873.1:c.116_118dup XP_006721936.1:p.Ser39_Lys40insSer
XM_006721874.1:c.116_118dup XP_006721937.1:p.Ser39_Lys40insSer
XM_006721875.1:c.116_118dup XP_006721938.1:p.Ser39_Lys40insSer
XM_006721878.1:c.116_118dup XP_006721941.1:p.Ser39_Lys40insSer
XM_011524753.1:c.116_118dup XP_011523055.1:p.Ser39_Lys40insSer
XM_011524754.1:c.116_118dup XP_011523056.1:p.Ser39_Lys40insSer
XM_011524755.1:c.116_118dup XP_011523057.1:p.Ser39_Lys40insSer
XM_011524756.1:c.116_118dup XP_011523058.1:p.Ser39_Lys40insSer
XM_011524757.1:c.116_118dup XP_011523059.1:p.Ser39_Lys40insSer
XM_011524758.1:c.116_118dup XP_011523060.1:p.Ser39_Lys40insSer
NM_001352773.1:c.116_118dup VV NP_001339702.1:p.Ser39_Lys40insSer
NM_001352774.1:c.116_118dup VV NP_001339703.1:p.Ser39_Lys40insSer
NM_001352775.1:c.116_118dup VV NP_001339704.1:p.Ser39_Lys40insSer
NM_001352776.1:c.116_118dup VV NP_001339705.1:p.Ser39_Lys40insSer
NM_001352777.1:c.116_118dup VV NP_001339706.1:p.Ser39_Lys40insSer
NM_002230.3:c.116_118dup VV NP_002221.1:p.Ser39_Lys40insSer
NM_021991.3:c.116_118dup VV NP_068831.1:p.Ser39_Lys40insSer
XM_006721874.3:c.116_118dup XP_006721937.1:p.Ser39_Lys40insSer
XM_011524753.2:c.116_118dup XP_011523055.1:p.Ser39_Lys40insSer
XM_017024588.2:c.167_169dup XP_016880077.1:p.Ser56_Lys57insSer
XM_017024590.1:c.116_118dup XP_016880079.1:p.Ser39_Lys40insSer
NM_002230.4:c.116_118dup VV MANE Preferred NP_002221.1:p.Ser39_Lys40insSer
ENST00000310706.9:c.116_118dup ENSP00000311113.5:p.Ser39_Lys40insSer
ENST00000393930.5:c.116_118dup ENSP00000377507.1:p.Ser39_Lys40insSer
ENST00000393931.7:c.116_118dup ENSP00000377508.3:p.Ser39_Lys40insSer
ENST00000420370.5:c.116_118dup ENSP00000411449.1:p.Ser39_Lys40insSer
ENST00000424457.5:c.116_118dup ENSP00000401034.1:p.Ser39_Lys40insSer
ENST00000437187.5:c.116_118dup ENSP00000394146.1:p.Ser39_Lys40insSer
ENST00000437369.5:c.116_118dup ENSP00000409948.1:p.Ser39_Lys40insSer
ENST00000449889.5:c.116_118dup ENSP00000389886.1:p.Ser39_Lys40insSer
ENST00000589036.1:n.244_246dup
ENST00000591690.5:c.116_118dup ENSP00000468347.1:p.Ser39_Lys40insSer