Canonical Allele Identifier: CA658683446

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 496517
• ClinVar RCV Id: RCV000588451
• dbSNP Id: rs1554212326
• gnomAD v4: 6-52050255-A-AT
• MyVariant Identifiers: chr6:g.51915054dup (hg19) ; chr6:g.52050256dup (hg38)
• PubMed: PMID:15805161

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52050257dup , CM000668.2:g.52050257dup	GRCh38
NC_000006.11:g.51915055dup , CM000668.1:g.51915055dup	GRCh37
NC_000006.10:g.52023014dup	NCBI36
NG_008753.1:g.42370dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.2180dup MANE Select	ENSP00000360158.3:p.Asn727LysfsTer?
ENST00000340994.4:c.2180dup	ENSP00000341097.4:p.Asn727LysfsTer?
ENST00000371117.7:c.2180dup	ENSP00000360158.3:p.Asn727LysfsTer?
NM_138694.3:c.2180dup	NP_619639.3:p.Asn727LysfsTer?
NM_170724.2:c.2180dup	NP_733842.2:p.Asn727LysfsTer?
XM_011514679.1:c.2180dup	XP_011512981.1:p.Asn727LysfsTer?
XM_011514680.1:c.2180dup	XP_011512982.1:p.Asn727LysfsTer?
XM_011514681.1:c.2180dup	XP_011512983.1:p.Asn727LysfsTer?
XM_011514682.1:c.2180dup	XP_011512984.1:p.Asn727LysfsTer?
XM_011514683.1:c.2180dup	XP_011512985.1:p.Asn727LysfsTer?
XM_011514684.1:c.1469dup	XP_011512986.1:p.Asn490LysfsTer?
XM_011514685.1:c.2180dup	XP_011512987.1:p.Asn727LysfsTer?
XM_011514686.1:c.2180dup	XP_011512988.1:p.Asn727LysfsTer?
XM_011514687.1:c.2180dup	XP_011512989.1:p.Asn727LysfsTer?
XM_011514688.1:c.2180dup	XP_011512990.1:p.Asn727LysfsTer?
XM_011514689.1:c.2180dup	XP_011512991.1:p.Asn727LysfsTer?
XM_011514680.3:c.2180dup	XP_011512982.1:p.Asn727LysfsTer?
XM_011514682.3:c.2180dup	XP_011512984.1:p.Asn727LysfsTer?
XM_011514683.3:c.2180dup	XP_011512985.1:p.Asn727LysfsTer?
XM_011514684.3:c.1469dup	XP_011512986.1:p.Asn490LysfsTer?
XM_011514686.2:c.2180dup	XP_011512988.1:p.Asn727LysfsTer?
XM_011514688.2:c.2180dup	XP_011512990.1:p.Asn727LysfsTer?
XM_017010944.2:c.2180dup	XP_016866433.1:p.Asn727LysfsTer?
XM_017010945.2:c.2105dup	XP_016866434.1:p.Asn702LysfsTer?
XM_017010946.2:c.2180dup	XP_016866435.1:p.Asn727LysfsTer?
XM_017010947.2:c.2180dup	XP_016866436.1:p.Asn727LysfsTer?
XM_017010948.2:c.1469dup	XP_016866437.1:p.Asn490LysfsTer?
XM_017010949.2:c.320dup	XP_016866438.1:p.Asn107LysfsTer?
XM_017010950.1:c.2180dup	XP_016866439.1:p.Asn727LysfsTer?
XM_017010951.1:c.2180dup	XP_016866440.1:p.Asn727LysfsTer?
XM_017010952.1:c.2180dup	XP_016866441.1:p.Asn727LysfsTer?
XR_001743469.1:n.2456dup
NM_138694.4:c.2180dup MANE Select	NP_619639.3:p.Asn727LysfsTer?
NM_170724.3:c.2180dup	NP_733842.2:p.Asn727LysfsTer?