Canonical Allele Identifier: CA16041051
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370942
ClinVar RCV Id: RCV000409945
dbSNP Id: rs1057516885

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52024922del , CM000668.2:g.52024922del GRCh38
NC_000006.11:g.51889720del , CM000668.1:g.51889720del GRCh37
NC_000006.10:g.51997679del NCBI36
NG_008753.1:g.67706del

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.4890del MANE Select ENSP00000360158.3:p.Asn1631MetfsTer8
ENST00000340994.4:c.4890del ENSP00000341097.4:p.Asn1631MetfsTer8
ENST00000371117.7:c.4890del ENSP00000360158.3:p.Asn1631MetfsTer8
NM_138694.3:c.4890del NP_619639.3:p.Asn1631MetfsTer8
NM_170724.2:c.4890del NP_733842.2:p.Asn1631MetfsTer8
XM_011514679.1:c.4890del XP_011512981.1:p.Asn1631MetfsTer8
XM_011514680.1:c.4890del XP_011512982.1:p.Asn1631MetfsTer8
XM_011514681.1:c.4890del XP_011512983.1:p.Asn1631MetfsTer8
XM_011514682.1:c.4890del XP_011512984.1:p.Asn1631MetfsTer8
XM_011514683.1:c.4248del XP_011512985.1:p.Asn1417MetfsTer8
XM_011514684.1:c.4179del XP_011512986.1:p.Asn1394MetfsTer8
XM_011514685.1:c.4890del XP_011512987.1:p.Asn1631MetfsTer8
XM_011514686.1:c.4890del XP_011512988.1:p.Asn1631MetfsTer8
XM_011514687.1:c.4890del XP_011512989.1:p.Asn1631MetfsTer8
XM_011514688.1:c.4890del XP_011512990.1:p.Asn1631MetfsTer8
XM_011514689.1:c.4890del XP_011512991.1:p.Asn1631MetfsTer8
XM_011514680.3:c.4890del XP_011512982.1:p.Asn1631MetfsTer8
XM_011514682.3:c.4890del XP_011512984.1:p.Asn1631MetfsTer8
XM_011514683.3:c.4248del XP_011512985.1:p.Asn1417MetfsTer8
XM_011514684.3:c.4179del XP_011512986.1:p.Asn1394MetfsTer8
XM_011514686.2:c.4890del XP_011512988.1:p.Asn1631MetfsTer8
XM_011514688.2:c.4890del XP_011512990.1:p.Asn1631MetfsTer8
XM_017010944.2:c.4890del XP_016866433.1:p.Asn1631MetfsTer8
XM_017010945.2:c.4815del XP_016866434.1:p.Asn1606MetfsTer8
XM_017010946.2:c.4890del XP_016866435.1:p.Asn1631MetfsTer8
XM_017010947.2:c.4626del XP_016866436.1:p.Asn1543MetfsTer8
XM_017010948.2:c.4179del XP_016866437.1:p.Asn1394MetfsTer8
XM_017010949.2:c.3030del XP_016866438.1:p.Asn1011MetfsTer8
XM_017010950.1:c.4890del XP_016866439.1:p.Asn1631MetfsTer8
XM_017010951.1:c.4890del XP_016866440.1:p.Asn1631MetfsTer8
XM_017010952.1:c.4890del XP_016866441.1:p.Asn1631MetfsTer8
XR_001743469.1:n.5166del
NM_138694.4:c.4890del MANE Select NP_619639.3:p.Asn1631MetfsTer8
NM_170724.3:c.4890del NP_733842.2:p.Asn1631MetfsTer8