Canonical Allele Identifier: CA2529619496

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748195_51748196insATACT , CM000668.2:g.51748195_51748196insATACT	GRCh38
NC_000006.11:g.51612993_51612994insATACT , CM000668.1:g.51612993_51612994insATACT	GRCh37
NC_000006.10:g.51720952_51720953insATACT	NCBI36
NG_008753.1:g.344430_344431insAGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9420_9421insAGTAT MANE Select	ENSP00000360158.3:p.Cys3141SerfsTer23
ENST00000340994.4:c.9420_9421insAGTAT	ENSP00000341097.4:p.Cys3141SerfsTer23
ENST00000371117.7:c.9420_9421insAGTAT	ENSP00000360158.3:p.Cys3141SerfsTer23
NM_138694.3:c.9420_9421insAGTAT	NP_619639.3:p.Cys3141SerfsTer23
NM_170724.2:c.9420_9421insAGTAT	NP_733842.2:p.Cys3141SerfsTer23
XM_011514679.1:c.9420_9421insAGTAT	XP_011512981.1:p.Cys3141SerfsTer23
XM_011514680.1:c.9420_9421insAGTAT	XP_011512982.1:p.Cys3141SerfsTer23
XM_011514681.1:c.9291_9292insAGTAT	XP_011512983.1:p.Cys3098SerfsTer23
XM_011514682.1:c.9282_9283insAGTAT	XP_011512984.1:p.Cys3095SerfsTer23
XM_011514683.1:c.8778_8779insAGTAT	XP_011512985.1:p.Cys2927SerfsTer23
XM_011514684.1:c.8709_8710insAGTAT	XP_011512986.1:p.Cys2904SerfsTer23
XM_011514685.1:c.9420_9421insAGTAT	XP_011512987.1:p.Cys3141SerfsTer23
XM_011514686.1:c.9420_9421insAGTAT	XP_011512988.1:p.Cys3141SerfsTer23
XM_011514687.1:c.9420_9421insAGTAT	XP_011512989.1:p.Cys3141SerfsTer23
XM_011514688.1:c.9420_9421insAGTAT	XP_011512990.1:p.Cys3141SerfsTer23
XM_011514690.1:c.3495_3496insAGTAT	XP_011512992.1:p.Cys1166SerfsTer23
XM_011514691.1:c.3495_3496insAGTAT	XP_011512993.1:p.Cys1166SerfsTer23
XM_011514680.3:c.9420_9421insAGTAT	XP_011512982.1:p.Cys3141SerfsTer23
XM_011514682.3:c.9282_9283insAGTAT	XP_011512984.1:p.Cys3095SerfsTer23
XM_011514683.3:c.8778_8779insAGTAT	XP_011512985.1:p.Cys2927SerfsTer23
XM_011514684.3:c.8709_8710insAGTAT	XP_011512986.1:p.Cys2904SerfsTer23
XM_011514686.2:c.9420_9421insAGTAT	XP_011512988.1:p.Cys3141SerfsTer23
XM_011514688.2:c.9420_9421insAGTAT	XP_011512990.1:p.Cys3141SerfsTer23
XM_011514690.3:c.3495_3496insAGTAT	XP_011512992.1:p.Cys1166SerfsTer23
XM_011514691.3:c.3495_3496insAGTAT	XP_011512993.1:p.Cys1166SerfsTer23
XM_017010944.2:c.9420_9421insAGTAT	XP_016866433.1:p.Cys3141SerfsTer23
XM_017010945.2:c.9345_9346insAGTAT	XP_016866434.1:p.Cys3116SerfsTer23
XM_017010946.2:c.9225_9226insAGTAT	XP_016866435.1:p.Cys3076SerfsTer23
XM_017010947.2:c.9156_9157insAGTAT	XP_016866436.1:p.Cys3053SerfsTer23
XM_017010948.2:c.8709_8710insAGTAT	XP_016866437.1:p.Cys2904SerfsTer23
XM_017010949.2:c.7560_7561insAGTAT	XP_016866438.1:p.Cys2521SerfsTer23
XM_017010950.1:c.9420_9421insAGTAT	XP_016866439.1:p.Cys3141SerfsTer23
XR_001743469.1:n.9696_9697insAGTAT
NM_138694.4:c.9420_9421insAGTAT MANE Select	NP_619639.3:p.Cys3141SerfsTer23
NM_170724.3:c.9420_9421insAGTAT	NP_733842.2:p.Cys3141SerfsTer23