Canonical Allele Identifier: CA2842641835

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52070889_52070892del , CM000668.2:g.52070889_52070892del	GRCh38
NC_000006.11:g.51935687_51935690del , CM000668.1:g.51935687_51935690del	GRCh37
NC_000006.10:g.52043646_52043649del	NCBI36
NG_008753.1:g.21734_21737del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.667+114_667+117del MANE Select	ENSP00000360158.3:n.667+114_667+117del
ENST00000340994.4:c.667+114_667+117del	ENSP00000341097.4:n.667+114_667+117del
ENST00000371117.7:c.667+114_667+117del	ENSP00000360158.3:n.667+114_667+117del
NM_138694.3:c.667+114_667+117del	NP_619639.3:n.667+114_667+117del
NM_170724.2:c.667+114_667+117del	NP_733842.2:n.667+114_667+117del
XM_011514679.1:c.667+114_667+117del	XP_011512981.1:n.667+114_667+117del
XM_011514680.1:c.667+114_667+117del	XP_011512982.1:n.667+114_667+117del
XM_011514681.1:c.667+114_667+117del	XP_011512983.1:n.667+114_667+117del
XM_011514682.1:c.667+114_667+117del	XP_011512984.1:n.667+114_667+117del
XM_011514683.1:c.667+114_667+117del	XP_011512985.1:n.667+114_667+117del
XM_011514684.1:c.-45+101_-45+104del	XP_011512986.1:n.-45+101_-45+104del
XM_011514685.1:c.667+114_667+117del	XP_011512987.1:n.667+114_667+117del
XM_011514686.1:c.667+114_667+117del	XP_011512988.1:n.667+114_667+117del
XM_011514687.1:c.667+114_667+117del	XP_011512989.1:n.667+114_667+117del
XM_011514688.1:c.667+114_667+117del	XP_011512990.1:n.667+114_667+117del
XM_011514689.1:c.667+114_667+117del	XP_011512991.1:n.667+114_667+117del
XR_926869.1:n.390-115_390-112del
XM_011514680.3:c.667+114_667+117del	XP_011512982.1:n.667+114_667+117del
XM_011514682.3:c.667+114_667+117del	XP_011512984.1:n.667+114_667+117del
XM_011514683.3:c.667+114_667+117del	XP_011512985.1:n.667+114_667+117del
XM_011514684.3:c.-45+101_-45+104del	XP_011512986.1:n.-45+101_-45+104del
XM_011514686.2:c.667+114_667+117del	XP_011512988.1:n.667+114_667+117del
XM_011514688.2:c.667+114_667+117del	XP_011512990.1:n.667+114_667+117del
XM_017010944.2:c.667+114_667+117del	XP_016866433.1:n.667+114_667+117del
XM_017010945.2:c.592+114_592+117del	XP_016866434.1:n.592+114_592+117del
XM_017010946.2:c.667+114_667+117del	XP_016866435.1:n.667+114_667+117del
XM_017010947.2:c.667+114_667+117del	XP_016866436.1:n.667+114_667+117del
XM_017010950.1:c.667+114_667+117del	XP_016866439.1:n.667+114_667+117del
XM_017010951.1:c.667+114_667+117del	XP_016866440.1:n.667+114_667+117del
XM_017010952.1:c.667+114_667+117del	XP_016866441.1:n.667+114_667+117del
XR_001743469.1:n.943+114_943+117del
NM_138694.4:c.667+114_667+117del MANE Select	NP_619639.3:n.667+114_667+117del
NM_170724.3:c.667+114_667+117del	NP_733842.2:n.667+114_667+117del