Canonical Allele Identifier: CA2695198858

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2677861
• ClinVar RCV Id: RCV003471689

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748162del , CM000668.2:g.51748162del	GRCh38
NC_000006.11:g.51612960del , CM000668.1:g.51612960del	GRCh37
NC_000006.10:g.51720919del	NCBI36
NG_008753.1:g.344465del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9455del MANE Select	ENSP00000360158.3:p.Asn3152ThrfsTer10
ENST00000340994.4:c.9455del	ENSP00000341097.4:p.Asn3152ThrfsTer10
ENST00000371117.7:c.9455del	ENSP00000360158.3:p.Asn3152ThrfsTer10
NM_138694.3:c.9455del	NP_619639.3:p.Asn3152ThrfsTer10
NM_170724.2:c.9455del	NP_733842.2:p.Asn3152ThrfsTer10
XM_011514679.1:c.9455del	XP_011512981.1:p.Asn3152ThrfsTer10
XM_011514680.1:c.9455del	XP_011512982.1:p.Asn3152ThrfsTer10
XM_011514681.1:c.9326del	XP_011512983.1:p.Asn3109ThrfsTer10
XM_011514682.1:c.9317del	XP_011512984.1:p.Asn3106ThrfsTer10
XM_011514683.1:c.8813del	XP_011512985.1:p.Asn2938ThrfsTer10
XM_011514684.1:c.8744del	XP_011512986.1:p.Asn2915ThrfsTer10
XM_011514685.1:c.9455del	XP_011512987.1:p.Asn3152ThrfsTer10
XM_011514686.1:c.9455del	XP_011512988.1:p.Asn3152ThrfsTer10
XM_011514687.1:c.9455del	XP_011512989.1:p.Asn3152ThrfsTer10
XM_011514688.1:c.9455del	XP_011512990.1:p.Asn3152ThrfsTer10
XM_011514690.1:c.3530del	XP_011512992.1:p.Asn1177ThrfsTer10
XM_011514691.1:c.3530del	XP_011512993.1:p.Asn1177ThrfsTer10
XM_011514680.3:c.9455del	XP_011512982.1:p.Asn3152ThrfsTer10
XM_011514682.3:c.9317del	XP_011512984.1:p.Asn3106ThrfsTer10
XM_011514683.3:c.8813del	XP_011512985.1:p.Asn2938ThrfsTer10
XM_011514684.3:c.8744del	XP_011512986.1:p.Asn2915ThrfsTer10
XM_011514686.2:c.9455del	XP_011512988.1:p.Asn3152ThrfsTer10
XM_011514688.2:c.9455del	XP_011512990.1:p.Asn3152ThrfsTer10
XM_011514690.3:c.3530del	XP_011512992.1:p.Asn1177ThrfsTer10
XM_011514691.3:c.3530del	XP_011512993.1:p.Asn1177ThrfsTer10
XM_017010944.2:c.9455del	XP_016866433.1:p.Asn3152ThrfsTer10
XM_017010945.2:c.9380del	XP_016866434.1:p.Asn3127ThrfsTer10
XM_017010946.2:c.9260del	XP_016866435.1:p.Asn3087ThrfsTer10
XM_017010947.2:c.9191del	XP_016866436.1:p.Asn3064ThrfsTer10
XM_017010948.2:c.8744del	XP_016866437.1:p.Asn2915ThrfsTer10
XM_017010949.2:c.7595del	XP_016866438.1:p.Asn2532ThrfsTer10
XM_017010950.1:c.9455del	XP_016866439.1:p.Asn3152ThrfsTer10
XR_001743469.1:n.9731del
NM_138694.4:c.9455del MANE Select	NP_619639.3:p.Asn3152ThrfsTer10
NM_170724.3:c.9455del	NP_733842.2:p.Asn3152ThrfsTer10