Canonical Allele Identifier: CA16041039
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370690
ClinVar RCV Id: RCV000410553
dbSNP Id: rs1057516690
MyVariant Identifiers: chr6:g.51720736del (hg19) chr6:g.51855938del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51855939del , CM000668.2:g.51855939del GRCh38
NC_000006.11:g.51720737del , CM000668.1:g.51720737del GRCh37
NC_000006.10:g.51828696del NCBI36
NG_008753.1:g.236688del

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.7866del MANE Select ENSP00000360158.3:p.Tyr2623ThrfsTer?
ENST00000340994.4:c.7866del ENSP00000341097.4:p.Tyr2623ThrfsTer?
ENST00000371117.7:c.7866del ENSP00000360158.3:p.Tyr2623ThrfsTer?
NM_138694.3:c.7866del NP_619639.3:p.Tyr2623ThrfsTer?
NM_170724.2:c.7866del NP_733842.2:p.Tyr2623ThrfsTer?
XM_011514679.1:c.7866del XP_011512981.1:p.Tyr2623ThrfsTer?
XM_011514680.1:c.7866del XP_011512982.1:p.Tyr2623ThrfsTer?
XM_011514681.1:c.7866del XP_011512983.1:p.Tyr2623ThrfsTer?
XM_011514682.1:c.7866del XP_011512984.1:p.Tyr2623ThrfsTer?
XM_011514683.1:c.7224del XP_011512985.1:p.Tyr2409ThrfsTer?
XM_011514684.1:c.7155del XP_011512986.1:p.Tyr2386ThrfsTer?
XM_011514685.1:c.7866del XP_011512987.1:p.Tyr2623ThrfsTer?
XM_011514686.1:c.7866del XP_011512988.1:p.Tyr2623ThrfsTer?
XM_011514687.1:c.7866del XP_011512989.1:p.Tyr2623ThrfsTer?
XM_011514688.1:c.7866del XP_011512990.1:p.Tyr2623ThrfsTer?
XM_011514689.1:c.7866del XP_011512991.1:p.Tyr2623ThrfsTer?
XM_011514690.1:c.1941del XP_011512992.1:p.Tyr648ThrfsTer?
XM_011514691.1:c.1941del XP_011512993.1:p.Tyr648ThrfsTer?
XM_011514680.3:c.7866del XP_011512982.1:p.Tyr2623ThrfsTer?
XM_011514682.3:c.7866del XP_011512984.1:p.Tyr2623ThrfsTer?
XM_011514683.3:c.7224del XP_011512985.1:p.Tyr2409ThrfsTer?
XM_011514684.3:c.7155del XP_011512986.1:p.Tyr2386ThrfsTer?
XM_011514686.2:c.7866del XP_011512988.1:p.Tyr2623ThrfsTer?
XM_011514688.2:c.7866del XP_011512990.1:p.Tyr2623ThrfsTer?
XM_011514690.3:c.1941del XP_011512992.1:p.Tyr648ThrfsTer?
XM_011514691.3:c.1941del XP_011512993.1:p.Tyr648ThrfsTer?
XM_017010944.2:c.7866del XP_016866433.1:p.Tyr2623ThrfsTer?
XM_017010945.2:c.7791del XP_016866434.1:p.Tyr2598ThrfsTer?
XM_017010946.2:c.7866del XP_016866435.1:p.Tyr2623ThrfsTer?
XM_017010947.2:c.7602del XP_016866436.1:p.Tyr2535ThrfsTer?
XM_017010948.2:c.7155del XP_016866437.1:p.Tyr2386ThrfsTer?
XM_017010949.2:c.6006del XP_016866438.1:p.Tyr2003ThrfsTer?
XM_017010950.1:c.7866del XP_016866439.1:p.Tyr2623ThrfsTer?
XM_017010951.1:c.7866del XP_016866440.1:p.Tyr2623ThrfsTer?
XM_017010952.1:c.7866del XP_016866441.1:p.Tyr2623ThrfsTer?
XR_001743469.1:n.8142del
NM_138694.4:c.7866del MANE Select NP_619639.3:p.Tyr2623ThrfsTer?
NM_170724.3:c.7866del NP_733842.2:p.Tyr2623ThrfsTer?
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