Canonical Allele Identifier: CA16041072
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370699
ClinVar RCV Id: RCV000411065
dbSNP Id: rs1057516697
MyVariant Identifiers: chr6:g.51938260del (hg19) chr6:g.52073462del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52073463del , CM000668.2:g.52073463del GRCh38
NC_000006.11:g.51938261del , CM000668.1:g.51938261del GRCh37
NC_000006.10:g.52046220del NCBI36
NG_008753.1:g.19164del

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.527+1del
ENST00000340994.4:c.527+1del
ENST00000371117.7:c.527+1del
NM_138694.3:c.527+1del
NM_170724.2:c.527+1del
XM_011514679.1:c.527+1del
XM_011514680.1:c.527+1del
XM_011514681.1:c.527+1del
XM_011514682.1:c.527+1del
XM_011514683.1:c.527+1del
XM_011514685.1:c.527+1del
XM_011514686.1:c.527+1del
XM_011514687.1:c.527+1del
XM_011514688.1:c.527+1del
XM_011514689.1:c.527+1del
XM_011514680.3:c.527+1del
XM_011514682.3:c.527+1del
XM_011514683.3:c.527+1del
XM_011514686.2:c.527+1del
XM_011514688.2:c.527+1del
XM_017010944.2:c.527+1del
XM_017010945.2:c.527+1del
XM_017010946.2:c.527+1del
XM_017010947.2:c.527+1del
XM_017010950.1:c.527+1del
XM_017010951.1:c.527+1del
XM_017010952.1:c.527+1del
XR_001743469.1:n.803+1del
NM_138694.4:c.527+1del
NM_170724.3:c.527+1del
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