Canonical Allele Identifier: CA16041057
Gene: PKHD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371441
ClinVar RCV Id: RCV000409843
dbSNP Id: rs1057517273

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52025870del , CM000668.2:g.52025870del GRCh38
NC_000006.11:g.51890668del , CM000668.1:g.51890668del GRCh37
NC_000006.10:g.51998627del NCBI36
NG_008753.1:g.66756del

Transcript Alleles

HGVS Amino-acid change
NM_138694.3:c.3940del VV NP_619639.3:p.Ser1314AlafsTer2
NM_170724.2:c.3940del VV NP_733842.2:p.Ser1314AlafsTer2
XM_011514679.1:c.3940del XP_011512981.1:p.Ser1314AlafsTer2
XM_011514680.1:c.3940del XP_011512982.1:p.Ser1314AlafsTer2
XM_011514681.1:c.3940del XP_011512983.1:p.Ser1314AlafsTer2
XM_011514682.1:c.3940del XP_011512984.1:p.Ser1314AlafsTer2
XM_011514683.1:c.3940del XP_011512985.1:p.Ser1314AlafsTer2
XM_011514684.1:c.3229del XP_011512986.1:p.Ser1077AlafsTer2
XM_011514685.1:c.3940del XP_011512987.1:p.Ser1314AlafsTer2
XM_011514686.1:c.3940del XP_011512988.1:p.Ser1314AlafsTer2
XM_011514687.1:c.3940del XP_011512989.1:p.Ser1314AlafsTer2
XM_011514688.1:c.3940del XP_011512990.1:p.Ser1314AlafsTer2
XM_011514689.1:c.3940del XP_011512991.1:p.Ser1314AlafsTer2
XM_011514680.3:c.3940del
XM_011514682.3:c.3940del
XM_011514683.3:c.3940del
XM_011514684.3:c.3229del
XM_011514686.2:c.3940del
XM_011514688.2:c.3940del
XM_017010944.2:c.3940del XP_016866433.1:p.Ser1314AlafsTer2
XM_017010945.2:c.3865del XP_016866434.1:p.Ser1289AlafsTer2
XM_017010946.2:c.3940del XP_016866435.1:p.Ser1314AlafsTer2
XM_017010947.2:c.3676del XP_016866436.1:p.Ser1226AlafsTer2
XM_017010948.2:c.3229del XP_016866437.1:p.Ser1077AlafsTer2
XM_017010949.2:c.2080del XP_016866438.1:p.Ser694AlafsTer2
XM_017010950.1:c.3940del XP_016866439.1:p.Ser1314AlafsTer2
XM_017010951.1:c.3940del XP_016866440.1:p.Ser1314AlafsTer2
XM_017010952.1:c.3940del XP_016866441.1:p.Ser1314AlafsTer2
XR_001743469.1:n.4216del
ENST00000340994.4:c.3940del ENSP00000341097.4:p.Ser1314AlafsTer2
ENST00000371117.7:c.3940del ENSP00000360158.3:p.Ser1314AlafsTer2