Canonical Allele Identifier: CA645372429

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 433027
• ClinVar RCV Id: RCV000498919
• MyVariant Identifiers: chr6:g.51920969_51924628del (hg19) ; chr6:g.52056171_52059830del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52056172_52059831del , CM000668.2:g.52056172_52059831del	GRCh38
NC_000006.11:g.51920970_51924629del , CM000668.1:g.51920970_51924629del	GRCh37
NC_000006.10:g.52028929_52032588del	NCBI36
NG_008753.1:g.32797_36456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.1233+99_1694-441del
ENST00000340994.4:c.1233+99_1694-441del
ENST00000371117.7:c.1233+99_1694-441del
NM_138694.3:c.1233+99_1694-441del
NM_170724.2:c.1233+99_1694-441del
XM_011514679.1:c.1233+99_1694-441del
XM_011514680.1:c.1233+99_1694-441del
XM_011514681.1:c.1233+99_1694-441del
XM_011514682.1:c.1233+99_1694-441del
XM_011514683.1:c.1233+99_1694-441del
XM_011514684.1:c.522+99_983-441del
XM_011514685.1:c.1233+99_1694-441del
XM_011514686.1:c.1233+99_1694-441del
XM_011514687.1:c.1233+99_1694-441del
XM_011514688.1:c.1233+99_1694-441del
XM_011514689.1:c.1233+99_1694-441del
XM_011514680.3:c.1233+99_1694-441del
XM_011514682.3:c.1233+99_1694-441del
XM_011514683.3:c.1233+99_1694-441del
XM_011514684.3:c.522+99_983-441del
XM_011514686.2:c.1233+99_1694-441del
XM_011514688.2:c.1233+99_1694-441del
XM_017010944.2:c.1233+99_1694-441del
XM_017010945.2:c.1158+99_1619-441del
XM_017010946.2:c.1233+99_1694-441del
XM_017010947.2:c.1233+99_1694-441del
XM_017010948.2:c.522+99_983-441del
XM_017010950.1:c.1233+99_1694-441del
XM_017010951.1:c.1233+99_1694-441del
XM_017010952.1:c.1233+99_1694-441del
XR_001743469.1:n.1509+99_1970-441del
NM_138694.4:c.1233+99_1694-441del
NM_170724.3:c.1233+99_1694-441del