Canonical Allele Identifier: CA2679076977

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51659281-TCTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659284_51659286del , CM000668.2:g.51659284_51659286del	GRCh38
NC_000006.11:g.51524082_51524084del , CM000668.1:g.51524082_51524084del	GRCh37
NC_000006.10:g.51632041_51632043del	NCBI36
NG_008753.1:g.433342_433344del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10842_10844del MANE Select	ENSP00000360158.3:p.Ser3614del
ENST00000371117.7:c.10842_10844del	ENSP00000360158.3:p.Ser3614del
NM_138694.3:c.10842_10844del	NP_619639.3:p.Ser3614del
XM_011514679.1:c.10842_10844del	XP_011512981.1:p.Ser3614del
XM_011514680.1:c.10842_10844del	XP_011512982.1:p.Ser3614del
XM_011514681.1:c.10713_10715del	XP_011512983.1:p.Ser3571del
XM_011514682.1:c.10704_10706del	XP_011512984.1:p.Ser3568del
XM_011514683.1:c.10200_10202del	XP_011512985.1:p.Ser3400del
XM_011514684.1:c.10131_10133del	XP_011512986.1:p.Ser3377del
XM_011514687.1:c.10157-10064_10157-10062del	XP_011512989.1:n.10157-10064_10157-10062del
XM_011514690.1:c.4917_4919del	XP_011512992.1:p.Ser1639del
XM_011514691.1:c.4917_4919del	XP_011512993.1:p.Ser1639del
XR_926870.1:n.535+6911_535+6913del
XR_926871.1:n.403+6911_403+6913del
XR_926872.1:n.535+6911_535+6913del
XM_011514680.3:c.10842_10844del	XP_011512982.1:p.Ser3614del
XM_011514682.3:c.10704_10706del	XP_011512984.1:p.Ser3568del
XM_011514683.3:c.10200_10202del	XP_011512985.1:p.Ser3400del
XM_011514684.3:c.10131_10133del	XP_011512986.1:p.Ser3377del
XM_011514690.3:c.4917_4919del	XP_011512992.1:p.Ser1639del
XM_011514691.3:c.4917_4919del	XP_011512993.1:p.Ser1639del
XM_017010944.2:c.10842_10844del	XP_016866433.1:p.Ser3614del
XM_017010945.2:c.10767_10769del	XP_016866434.1:p.Ser3589del
XM_017010946.2:c.10647_10649del	XP_016866435.1:p.Ser3549del
XM_017010947.2:c.10578_10580del	XP_016866436.1:p.Ser3526del
XM_017010948.2:c.10131_10133del	XP_016866437.1:p.Ser3377del
XM_017010949.2:c.8982_8984del	XP_016866438.1:p.Ser2994del
XR_001743469.1:n.11118_11120del
XR_001744157.1:n.3145+6911_3145+6913del
XR_926870.2:n.3145+6911_3145+6913del
XR_926871.2:n.3013+6911_3013+6913del
XR_926872.2:n.3145+6911_3145+6913del
NM_138694.4:c.10842_10844del MANE Select	NP_619639.3:p.Ser3614del