Canonical Allele Identifier: CA16041065
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370530
ClinVar RCV Id: RCV000410125
dbSNP Id: rs1057516562
MyVariant Identifiers: chr6:g.51909750_51909762del (hg19) chr6:g.52044952_52044964del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52044954_52044966del , CM000668.2:g.52044954_52044966del GRCh38
NC_000006.11:g.51909752_51909764del , CM000668.1:g.51909752_51909764del GRCh37
NC_000006.10:g.52017711_52017723del NCBI36
NG_008753.1:g.47662_47674del

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.2715+2_2715+14del
ENST00000340994.4:c.2715+2_2715+14del
ENST00000371117.7:c.2715+2_2715+14del
NM_138694.3:c.2715+2_2715+14del
NM_170724.2:c.2715+2_2715+14del
XM_011514679.1:c.2715+2_2715+14del
XM_011514680.1:c.2715+2_2715+14del
XM_011514681.1:c.2715+2_2715+14del
XM_011514682.1:c.2715+2_2715+14del
XM_011514683.1:c.2715+2_2715+14del
XM_011514684.1:c.2004+2_2004+14del
XM_011514685.1:c.2715+2_2715+14del
XM_011514686.1:c.2715+2_2715+14del
XM_011514687.1:c.2715+2_2715+14del
XM_011514688.1:c.2715+2_2715+14del
XM_011514689.1:c.2715+2_2715+14del
XM_011514680.3:c.2715+2_2715+14del
XM_011514682.3:c.2715+2_2715+14del
XM_011514683.3:c.2715+2_2715+14del
XM_011514684.3:c.2004+2_2004+14del
XM_011514686.2:c.2715+2_2715+14del
XM_011514688.2:c.2715+2_2715+14del
XM_017010944.2:c.2715+2_2715+14del
XM_017010945.2:c.2640+2_2640+14del
XM_017010946.2:c.2715+2_2715+14del
XM_017010947.2:c.2715+2_2715+14del
XM_017010948.2:c.2004+2_2004+14del
XM_017010949.2:c.855+2_855+14del
XM_017010950.1:c.2715+2_2715+14del
XM_017010951.1:c.2715+2_2715+14del
XM_017010952.1:c.2715+2_2715+14del
XR_001743469.1:n.2991+2_2991+14del
NM_138694.4:c.2715+2_2715+14del
NM_170724.3:c.2715+2_2715+14del
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