LDH info

Canonical Allele Identifier: CA256968
Gene: PAX2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13800
ClinVar RCV Id: RCV000014811
dbSNP Id: rs387906530

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100750702_100750707dup , CM000672.2:g.100750702_100750707dup GRCh38
NC_000010.10:g.102510459_102510464dup , CM000672.1:g.102510459_102510464dup GRCh37
NC_000010.9:g.102500449_102500454dup NCBI36
NG_008680.1:g.9992_9997dup
NG_008680.2:g.19994_19999dup

Transcript Alleles

HGVS Amino-acid change
NM_000278.3:c.221_226dup VV NP_000269.2:p.Thr75_Gly76insGluThr
NM_001304569.1:n.314_319dup VV NP_001291498.1:p.Thr106_Gly107insGluThr
NM_003987.3:c.221_226dup VV NP_003978.2:p.Thr75_Gly76insGluThr
NM_003988.3:c.221_226dup VV NP_003979.2:p.Thr75_Gly76insGluThr
NM_003989.3:c.221_226dup VV NP_003980.2:p.Thr75_Gly76insGluThr
NM_003990.3:c.221_226dup VV NP_003981.2:p.Thr75_Gly76insGluThr
NM_000278.4:c.221_226dup VV NP_000269.3:p.Thr75_Gly76insGluThr
NM_003987.4:c.221_226dup VV NP_003978.3:p.Thr75_Gly76insGluThr
NM_003988.4:c.221_226dup VV NP_003979.2:p.Thr75_Gly76insGluThr
NM_003989.4:c.221_226dup VV NP_003980.3:p.Thr75_Gly76insGluThr
NM_003990.4:c.221_226dup VV NP_003981.3:p.Thr75_Gly76insGluThr
ENST00000355243.7:c.221_226dup ENSP00000347385.2:p.Thr75_Gly76insGluThr
ENST00000361791.7:c.218_223dup ENSP00000355069.4:p.Thr74_Gly75insGluThr
ENST00000370296.6:c.221_226dup ENSP00000359319.3:p.Thr75_Gly76insGluThr
ENST00000427256.5:c.221_226dup ENSP00000398652.1:p.Thr75_Gly76insGluThr
ENST00000428433.5:c.221_226dup ENSP00000396259.1:p.Thr75_Gly76insGluThr
ENST00000553492.5:n.131+14969_131+14974dup
ENST00000554172.2:c.233_238dup ENSP00000452489.2:p.Thr79_Gly80insGluThr
ENST00000554363.2:n.125+4399_125+4404dup