LDH info

Canonical Allele Identifier: CA224113
Gene: PKHD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 96444
dbSNP Id: rs398124502

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51747927del , CM000668.2:g.51747927del GRCh38
NC_000006.11:g.51612725del , CM000668.1:g.51612725del GRCh37
NC_000006.10:g.51720684del NCBI36
NG_008753.1:g.344699del

Transcript Alleles

HGVS Amino-acid change
NM_138694.3:c.9689del VV NP_619639.3:p.Asp3230ValfsTer?
NM_170724.2:c.9689del VV NP_733842.2:p.Asp3230ValfsTer?
XM_011514679.1:c.9689del XP_011512981.1:p.Asp3230ValfsTer?
XM_011514680.1:c.9689del XP_011512982.1:p.Asp3230ValfsTer?
XM_011514681.1:c.9560del XP_011512983.1:p.Asp3187ValfsTer?
XM_011514682.1:c.9551del XP_011512984.1:p.Asp3184ValfsTer?
XM_011514683.1:c.9047del XP_011512985.1:p.Asp3016ValfsTer?
XM_011514684.1:c.8978del XP_011512986.1:p.Asp2993ValfsTer?
XM_011514685.1:c.9689del XP_011512987.1:p.Asp3230ValfsTer?
XM_011514686.1:c.9689del XP_011512988.1:p.Asp3230ValfsTer?
XM_011514687.1:c.9689del XP_011512989.1:p.Asp3230ValfsTer?
XM_011514688.1:c.9689del XP_011512990.1:p.Asp3230ValfsTer?
XM_011514690.1:c.3764del XP_011512992.1:p.Asp1255ValfsTer?
XM_011514691.1:c.3764del XP_011512993.1:p.Asp1255ValfsTer?
XM_011514680.3:c.9689del XP_011512982.1:p.Asp3230ValfsTer?
XM_011514682.3:c.9551del XP_011512984.1:p.Asp3184ValfsTer?
XM_011514683.3:c.9047del XP_011512985.1:p.Asp3016ValfsTer?
XM_011514684.3:c.8978del XP_011512986.1:p.Asp2993ValfsTer?
XM_011514686.2:c.9689del XP_011512988.1:p.Asp3230ValfsTer?
XM_011514688.2:c.9689del XP_011512990.1:p.Asp3230ValfsTer?
XM_011514690.3:c.3764del XP_011512992.1:p.Asp1255ValfsTer?
XM_011514691.3:c.3764del XP_011512993.1:p.Asp1255ValfsTer?
XM_017010944.2:c.9689del XP_016866433.1:p.Asp3230ValfsTer?
XM_017010945.2:c.9614del XP_016866434.1:p.Asp3205ValfsTer?
XM_017010946.2:c.9494del XP_016866435.1:p.Asp3165ValfsTer?
XM_017010947.2:c.9425del XP_016866436.1:p.Asp3142ValfsTer?
XM_017010948.2:c.8978del XP_016866437.1:p.Asp2993ValfsTer?
XM_017010949.2:c.7829del XP_016866438.1:p.Asp2610ValfsTer?
XM_017010950.1:c.9689del XP_016866439.1:p.Asp3230ValfsTer?
XR_001743469.1:n.9965del
NM_138694.4:c.9689del VV NP_619639.3:p.Asp3230ValfsTer?
NM_170724.3:c.9689del VV NP_733842.2:p.Asp3230ValfsTer?
ENST00000340994.4:c.9689del ENSP00000341097.4:p.Asp3230ValfsTer?
ENST00000371117.7:c.9689del ENSP00000360158.3:p.Asp3230ValfsTer?