Canonical Allele Identifier: CA16041043
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370569
ClinVar RCV Id: RCV000412300
dbSNP Id: rs1057516596
MyVariant Identifiers: chr6:g.51747971del (hg19) chr6:g.51883173del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51883173del , CM000668.2:g.51883173del GRCh38
NC_000006.11:g.51747971del , CM000668.1:g.51747971del GRCh37
NC_000006.10:g.51855930del NCBI36
NG_008753.1:g.209453del

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.7270del MANE Select ENSP00000360158.3:p.Asp2424IlefsTer?
ENST00000340994.4:c.7270del ENSP00000341097.4:p.Asp2424IlefsTer?
ENST00000371117.7:c.7270del ENSP00000360158.3:p.Asp2424IlefsTer?
NM_138694.3:c.7270del NP_619639.3:p.Asp2424IlefsTer?
NM_170724.2:c.7270del NP_733842.2:p.Asp2424IlefsTer?
XM_011514679.1:c.7270del XP_011512981.1:p.Asp2424IlefsTer?
XM_011514680.1:c.7270del XP_011512982.1:p.Asp2424IlefsTer?
XM_011514681.1:c.7270del XP_011512983.1:p.Asp2424IlefsTer?
XM_011514682.1:c.7270del XP_011512984.1:p.Asp2424IlefsTer?
XM_011514683.1:c.6628del XP_011512985.1:p.Asp2210IlefsTer?
XM_011514684.1:c.6559del XP_011512986.1:p.Asp2187IlefsTer?
XM_011514685.1:c.7270del XP_011512987.1:p.Asp2424IlefsTer?
XM_011514686.1:c.7270del XP_011512988.1:p.Asp2424IlefsTer?
XM_011514687.1:c.7270del XP_011512989.1:p.Asp2424IlefsTer?
XM_011514688.1:c.7270del XP_011512990.1:p.Asp2424IlefsTer?
XM_011514689.1:c.7270del XP_011512991.1:p.Asp2424IlefsTer?
XM_011514690.1:c.1345del XP_011512992.1:p.Asp449IlefsTer?
XM_011514691.1:c.1345del XP_011512993.1:p.Asp449IlefsTer?
XM_011514680.3:c.7270del XP_011512982.1:p.Asp2424IlefsTer?
XM_011514682.3:c.7270del XP_011512984.1:p.Asp2424IlefsTer?
XM_011514683.3:c.6628del XP_011512985.1:p.Asp2210IlefsTer?
XM_011514684.3:c.6559del XP_011512986.1:p.Asp2187IlefsTer?
XM_011514686.2:c.7270del XP_011512988.1:p.Asp2424IlefsTer?
XM_011514688.2:c.7270del XP_011512990.1:p.Asp2424IlefsTer?
XM_011514690.3:c.1345del XP_011512992.1:p.Asp449IlefsTer?
XM_011514691.3:c.1345del XP_011512993.1:p.Asp449IlefsTer?
XM_017010944.2:c.7270del XP_016866433.1:p.Asp2424IlefsTer?
XM_017010945.2:c.7195del XP_016866434.1:p.Asp2399IlefsTer?
XM_017010946.2:c.7270del XP_016866435.1:p.Asp2424IlefsTer?
XM_017010947.2:c.7006del XP_016866436.1:p.Asp2336IlefsTer?
XM_017010948.2:c.6559del XP_016866437.1:p.Asp2187IlefsTer?
XM_017010949.2:c.5410del XP_016866438.1:p.Asp1804IlefsTer?
XM_017010950.1:c.7270del XP_016866439.1:p.Asp2424IlefsTer?
XM_017010951.1:c.7270del XP_016866440.1:p.Asp2424IlefsTer?
XM_017010952.1:c.7270del XP_016866441.1:p.Asp2424IlefsTer?
XR_001743469.1:n.7546del
NM_138694.4:c.7270del MANE Select NP_619639.3:p.Asp2424IlefsTer?
NM_170724.3:c.7270del NP_733842.2:p.Asp2424IlefsTer?
Search 100 bp 5'
Search 100 bp 3'