Canonical Allele Identifier: CA16041029
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371184
ClinVar RCV Id: RCV000412022 RCV002470850
dbSNP Id: rs1057517071
MyVariant Identifiers: chr6:g.51609230dupA (hg19) chr6:g.51609229_51609230insA (hg19) chr6:g.51744432dupA (hg38) chr6:g.51744431_51744432insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51744432dup , CM000668.2:g.51744432dup GRCh38
NC_000006.11:g.51609230dup , CM000668.1:g.51609230dup GRCh37
NC_000006.10:g.51717189dup NCBI36
NG_008753.1:g.348194dup

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.10109dup MANE Select ENSP00000360158.3:p.Phe3371IlefsTer3
ENST00000340994.4:c.10109dup ENSP00000341097.4:p.Phe3371IlefsTer3
ENST00000371117.7:c.10109dup ENSP00000360158.3:p.Phe3371IlefsTer3
NM_138694.3:c.10109dup NP_619639.3:p.Phe3371IlefsTer3
NM_170724.2:c.10109dup NP_733842.2:p.Phe3371IlefsTer3
XM_011514679.1:c.10109dup XP_011512981.1:p.Phe3371IlefsTer3
XM_011514680.1:c.10109dup XP_011512982.1:p.Phe3371IlefsTer3
XM_011514681.1:c.9980dup XP_011512983.1:p.Phe3328IlefsTer3
XM_011514682.1:c.9971dup XP_011512984.1:p.Phe3325IlefsTer3
XM_011514683.1:c.9467dup XP_011512985.1:p.Phe3157IlefsTer3
XM_011514684.1:c.9398dup XP_011512986.1:p.Phe3134IlefsTer3
XM_011514685.1:c.10109dup XP_011512987.1:p.Phe3371IlefsTer3
XM_011514686.1:c.10109dup XP_011512988.1:p.Phe3371IlefsTer3
XM_011514687.1:c.10109dup XP_011512989.1:p.Phe3371IlefsTer3
XM_011514690.1:c.4184dup XP_011512992.1:p.Phe1396IlefsTer3
XM_011514691.1:c.4184dup XP_011512993.1:p.Phe1396IlefsTer3
XM_011514680.3:c.10109dup XP_011512982.1:p.Phe3371IlefsTer3
XM_011514682.3:c.9971dup XP_011512984.1:p.Phe3325IlefsTer3
XM_011514683.3:c.9467dup XP_011512985.1:p.Phe3157IlefsTer3
XM_011514684.3:c.9398dup XP_011512986.1:p.Phe3134IlefsTer3
XM_011514686.2:c.10109dup XP_011512988.1:p.Phe3371IlefsTer3
XM_011514690.3:c.4184dup XP_011512992.1:p.Phe1396IlefsTer3
XM_011514691.3:c.4184dup XP_011512993.1:p.Phe1396IlefsTer3
XM_017010944.2:c.10109dup XP_016866433.1:p.Phe3371IlefsTer3
XM_017010945.2:c.10034dup XP_016866434.1:p.Phe3346IlefsTer3
XM_017010946.2:c.9914dup XP_016866435.1:p.Phe3306IlefsTer3
XM_017010947.2:c.9845dup XP_016866436.1:p.Phe3283IlefsTer3
XM_017010948.2:c.9398dup XP_016866437.1:p.Phe3134IlefsTer3
XM_017010949.2:c.8249dup XP_016866438.1:p.Phe2751IlefsTer3
XM_017010950.1:c.10109dup XP_016866439.1:p.Phe3371IlefsTer3
XR_001743469.1:n.10385dup
NM_138694.4:c.10109dup MANE Select NP_619639.3:p.Phe3371IlefsTer3
NM_170724.3:c.10109dup NP_733842.2:p.Phe3371IlefsTer3
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