Canonical Allele Identifier: CA16041064
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371594
ClinVar RCV Id: RCV000412096
dbSNP Id: rs1057517394

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52043633del , CM000668.2:g.52043633del GRCh38
NC_000006.11:g.51908431del , CM000668.1:g.51908431del GRCh37
NC_000006.10:g.52016390del NCBI36
NG_008753.1:g.48993del

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.2813del MANE Select ENSP00000360158.3:p.Tyr938SerfsTer9
ENST00000340994.4:c.2813del ENSP00000341097.4:p.Tyr938SerfsTer9
ENST00000371117.7:c.2813del ENSP00000360158.3:p.Tyr938SerfsTer9
NM_138694.3:c.2813del NP_619639.3:p.Tyr938SerfsTer9
NM_170724.2:c.2813del NP_733842.2:p.Tyr938SerfsTer9
XM_011514679.1:c.2813del XP_011512981.1:p.Tyr938SerfsTer9
XM_011514680.1:c.2813del XP_011512982.1:p.Tyr938SerfsTer9
XM_011514681.1:c.2813del XP_011512983.1:p.Tyr938SerfsTer9
XM_011514682.1:c.2813del XP_011512984.1:p.Tyr938SerfsTer9
XM_011514683.1:c.2813del XP_011512985.1:p.Tyr938SerfsTer9
XM_011514684.1:c.2102del XP_011512986.1:p.Tyr701SerfsTer9
XM_011514685.1:c.2813del XP_011512987.1:p.Tyr938SerfsTer9
XM_011514686.1:c.2813del XP_011512988.1:p.Tyr938SerfsTer9
XM_011514687.1:c.2813del XP_011512989.1:p.Tyr938SerfsTer9
XM_011514688.1:c.2813del XP_011512990.1:p.Tyr938SerfsTer9
XM_011514689.1:c.2813del XP_011512991.1:p.Tyr938SerfsTer9
XM_011514680.3:c.2813del XP_011512982.1:p.Tyr938SerfsTer9
XM_011514682.3:c.2813del XP_011512984.1:p.Tyr938SerfsTer9
XM_011514683.3:c.2813del XP_011512985.1:p.Tyr938SerfsTer9
XM_011514684.3:c.2102del XP_011512986.1:p.Tyr701SerfsTer9
XM_011514686.2:c.2813del XP_011512988.1:p.Tyr938SerfsTer9
XM_011514688.2:c.2813del XP_011512990.1:p.Tyr938SerfsTer9
XM_017010944.2:c.2813del XP_016866433.1:p.Tyr938SerfsTer9
XM_017010945.2:c.2738del XP_016866434.1:p.Tyr913SerfsTer9
XM_017010946.2:c.2813del XP_016866435.1:p.Tyr938SerfsTer9
XM_017010947.2:c.2813del XP_016866436.1:p.Tyr938SerfsTer9
XM_017010948.2:c.2102del XP_016866437.1:p.Tyr701SerfsTer9
XM_017010949.2:c.953del XP_016866438.1:p.Tyr318SerfsTer9
XM_017010950.1:c.2813del XP_016866439.1:p.Tyr938SerfsTer9
XM_017010951.1:c.2813del XP_016866440.1:p.Tyr938SerfsTer9
XM_017010952.1:c.2813del XP_016866441.1:p.Tyr938SerfsTer9
XR_001743469.1:n.3089del
NM_138694.4:c.2813del MANE Select NP_619639.3:p.Tyr938SerfsTer9
NM_170724.3:c.2813del NP_733842.2:p.Tyr938SerfsTer9