Canonical Allele Identifier: CA16041058
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370781
dbSNP Id: rs1057516762

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52026089_52026120del , CM000668.2:g.52026089_52026120del GRCh38
NC_000006.11:g.51890887_51890918del , CM000668.1:g.51890887_51890918del GRCh37
NC_000006.10:g.51998846_51998877del NCBI36
NG_008753.1:g.66510_66541del

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.3694_3725del MANE Select ENSP00000360158.3:p.Val1232AsnfsTer8
ENST00000340994.4:c.3694_3725del ENSP00000341097.4:p.Val1232AsnfsTer8
ENST00000371117.7:c.3694_3725del ENSP00000360158.3:p.Val1232AsnfsTer8
NM_138694.3:c.3694_3725del NP_619639.3:p.Val1232AsnfsTer8
NM_170724.2:c.3694_3725del NP_733842.2:p.Val1232AsnfsTer8
XM_011514679.1:c.3694_3725del XP_011512981.1:p.Val1232AsnfsTer8
XM_011514680.1:c.3694_3725del XP_011512982.1:p.Val1232AsnfsTer8
XM_011514681.1:c.3694_3725del XP_011512983.1:p.Val1232AsnfsTer8
XM_011514682.1:c.3694_3725del XP_011512984.1:p.Val1232AsnfsTer8
XM_011514683.1:c.3694_3725del XP_011512985.1:p.Val1232AsnfsTer8
XM_011514684.1:c.2983_3014del XP_011512986.1:p.Val995AsnfsTer8
XM_011514685.1:c.3694_3725del XP_011512987.1:p.Val1232AsnfsTer8
XM_011514686.1:c.3694_3725del XP_011512988.1:p.Val1232AsnfsTer8
XM_011514687.1:c.3694_3725del XP_011512989.1:p.Val1232AsnfsTer8
XM_011514688.1:c.3694_3725del XP_011512990.1:p.Val1232AsnfsTer8
XM_011514689.1:c.3694_3725del XP_011512991.1:p.Val1232AsnfsTer8
XM_011514680.3:c.3694_3725del XP_011512982.1:p.Val1232AsnfsTer8
XM_011514682.3:c.3694_3725del XP_011512984.1:p.Val1232AsnfsTer8
XM_011514683.3:c.3694_3725del XP_011512985.1:p.Val1232AsnfsTer8
XM_011514684.3:c.2983_3014del XP_011512986.1:p.Val995AsnfsTer8
XM_011514686.2:c.3694_3725del XP_011512988.1:p.Val1232AsnfsTer8
XM_011514688.2:c.3694_3725del XP_011512990.1:p.Val1232AsnfsTer8
XM_017010944.2:c.3694_3725del XP_016866433.1:p.Val1232AsnfsTer8
XM_017010945.2:c.3619_3650del XP_016866434.1:p.Val1207AsnfsTer8
XM_017010946.2:c.3694_3725del XP_016866435.1:p.Val1232AsnfsTer8
XM_017010947.2:c.3430_3461del XP_016866436.1:p.Val1144AsnfsTer8
XM_017010948.2:c.2983_3014del XP_016866437.1:p.Val995AsnfsTer8
XM_017010949.2:c.1834_1865del XP_016866438.1:p.Val612AsnfsTer8
XM_017010950.1:c.3694_3725del XP_016866439.1:p.Val1232AsnfsTer8
XM_017010951.1:c.3694_3725del XP_016866440.1:p.Val1232AsnfsTer8
XM_017010952.1:c.3694_3725del XP_016866441.1:p.Val1232AsnfsTer8
XR_001743469.1:n.3970_4001del
NM_138694.4:c.3694_3725del MANE Select NP_619639.3:p.Val1232AsnfsTer8
NM_170724.3:c.3694_3725del NP_733842.2:p.Val1232AsnfsTer8