Canonical Allele Identifier: CA16043418
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374180
ClinVar RCV Id: RCV000414774
dbSNP Id: rs1057518952
MyVariant Identifiers: chr6:g.51889527dupC (hg19) chr6:g.51889526_51889527insC (hg19) chr6:g.52024729dupC (hg38) chr6:g.52024728_52024729insC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52024731dup , CM000668.2:g.52024731dup GRCh38
NC_000006.11:g.51889529dup , CM000668.1:g.51889529dup GRCh37
NC_000006.10:g.51997488dup NCBI36
NG_008753.1:g.67897dup

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.5081dup MANE Select ENSP00000360158.3:p.Val1695CysfsTer4
ENST00000340994.4:c.5081dup ENSP00000341097.4:p.Val1695CysfsTer4
ENST00000371117.7:c.5081dup ENSP00000360158.3:p.Val1695CysfsTer4
NM_138694.3:c.5081dup NP_619639.3:p.Val1695CysfsTer4
NM_170724.2:c.5081dup NP_733842.2:p.Val1695CysfsTer4
XM_011514679.1:c.5081dup XP_011512981.1:p.Val1695CysfsTer4
XM_011514680.1:c.5081dup XP_011512982.1:p.Val1695CysfsTer4
XM_011514681.1:c.5081dup XP_011512983.1:p.Val1695CysfsTer4
XM_011514682.1:c.5081dup XP_011512984.1:p.Val1695CysfsTer4
XM_011514683.1:c.4439dup XP_011512985.1:p.Val1481CysfsTer4
XM_011514684.1:c.4370dup XP_011512986.1:p.Val1458CysfsTer4
XM_011514685.1:c.5081dup XP_011512987.1:p.Val1695CysfsTer4
XM_011514686.1:c.5081dup XP_011512988.1:p.Val1695CysfsTer4
XM_011514687.1:c.5081dup XP_011512989.1:p.Val1695CysfsTer4
XM_011514688.1:c.5081dup XP_011512990.1:p.Val1695CysfsTer4
XM_011514689.1:c.5081dup XP_011512991.1:p.Val1695CysfsTer4
XM_011514680.3:c.5081dup XP_011512982.1:p.Val1695CysfsTer4
XM_011514682.3:c.5081dup XP_011512984.1:p.Val1695CysfsTer4
XM_011514683.3:c.4439dup XP_011512985.1:p.Val1481CysfsTer4
XM_011514684.3:c.4370dup XP_011512986.1:p.Val1458CysfsTer4
XM_011514686.2:c.5081dup XP_011512988.1:p.Val1695CysfsTer4
XM_011514688.2:c.5081dup XP_011512990.1:p.Val1695CysfsTer4
XM_017010944.2:c.5081dup XP_016866433.1:p.Val1695CysfsTer4
XM_017010945.2:c.5006dup XP_016866434.1:p.Val1670CysfsTer4
XM_017010946.2:c.5081dup XP_016866435.1:p.Val1695CysfsTer4
XM_017010947.2:c.4817dup XP_016866436.1:p.Val1607CysfsTer4
XM_017010948.2:c.4370dup XP_016866437.1:p.Val1458CysfsTer4
XM_017010949.2:c.3221dup XP_016866438.1:p.Val1075CysfsTer4
XM_017010950.1:c.5081dup XP_016866439.1:p.Val1695CysfsTer4
XM_017010951.1:c.5081dup XP_016866440.1:p.Val1695CysfsTer4
XM_017010952.1:c.5081dup XP_016866441.1:p.Val1695CysfsTer4
XR_001743469.1:n.5357dup
NM_138694.4:c.5081dup MANE Select NP_619639.3:p.Val1695CysfsTer4
NM_170724.3:c.5081dup NP_733842.2:p.Val1695CysfsTer4
Search 100 bp 5'
Search 100 bp 3'