Canonical Allele Identifier: CA2524344115

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748193_51748194insGA , CM000668.2:g.51748193_51748194insGA	GRCh38
NC_000006.11:g.51612991_51612992insGA , CM000668.1:g.51612991_51612992insGA	GRCh37
NC_000006.10:g.51720950_51720951insGA	NCBI36
NG_008753.1:g.344433_344434insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9423_9424insCT MANE Select	ENSP00000360158.3:p.Thr3142LeufsTer21
ENST00000340994.4:c.9423_9424insCT	ENSP00000341097.4:p.Thr3142LeufsTer21
ENST00000371117.7:c.9423_9424insCT	ENSP00000360158.3:p.Thr3142LeufsTer21
NM_138694.3:c.9423_9424insCT	NP_619639.3:p.Thr3142LeufsTer21
NM_170724.2:c.9423_9424insCT	NP_733842.2:p.Thr3142LeufsTer21
XM_011514679.1:c.9423_9424insCT	XP_011512981.1:p.Thr3142LeufsTer21
XM_011514680.1:c.9423_9424insCT	XP_011512982.1:p.Thr3142LeufsTer21
XM_011514681.1:c.9294_9295insCT	XP_011512983.1:p.Thr3099LeufsTer21
XM_011514682.1:c.9285_9286insCT	XP_011512984.1:p.Thr3096LeufsTer21
XM_011514683.1:c.8781_8782insCT	XP_011512985.1:p.Thr2928LeufsTer21
XM_011514684.1:c.8712_8713insCT	XP_011512986.1:p.Thr2905LeufsTer21
XM_011514685.1:c.9423_9424insCT	XP_011512987.1:p.Thr3142LeufsTer21
XM_011514686.1:c.9423_9424insCT	XP_011512988.1:p.Thr3142LeufsTer21
XM_011514687.1:c.9423_9424insCT	XP_011512989.1:p.Thr3142LeufsTer21
XM_011514688.1:c.9423_9424insCT	XP_011512990.1:p.Thr3142LeufsTer21
XM_011514690.1:c.3498_3499insCT	XP_011512992.1:p.Thr1167LeufsTer21
XM_011514691.1:c.3498_3499insCT	XP_011512993.1:p.Thr1167LeufsTer21
XM_011514680.3:c.9423_9424insCT	XP_011512982.1:p.Thr3142LeufsTer21
XM_011514682.3:c.9285_9286insCT	XP_011512984.1:p.Thr3096LeufsTer21
XM_011514683.3:c.8781_8782insCT	XP_011512985.1:p.Thr2928LeufsTer21
XM_011514684.3:c.8712_8713insCT	XP_011512986.1:p.Thr2905LeufsTer21
XM_011514686.2:c.9423_9424insCT	XP_011512988.1:p.Thr3142LeufsTer21
XM_011514688.2:c.9423_9424insCT	XP_011512990.1:p.Thr3142LeufsTer21
XM_011514690.3:c.3498_3499insCT	XP_011512992.1:p.Thr1167LeufsTer21
XM_011514691.3:c.3498_3499insCT	XP_011512993.1:p.Thr1167LeufsTer21
XM_017010944.2:c.9423_9424insCT	XP_016866433.1:p.Thr3142LeufsTer21
XM_017010945.2:c.9348_9349insCT	XP_016866434.1:p.Thr3117LeufsTer21
XM_017010946.2:c.9228_9229insCT	XP_016866435.1:p.Thr3077LeufsTer21
XM_017010947.2:c.9159_9160insCT	XP_016866436.1:p.Thr3054LeufsTer21
XM_017010948.2:c.8712_8713insCT	XP_016866437.1:p.Thr2905LeufsTer21
XM_017010949.2:c.7563_7564insCT	XP_016866438.1:p.Thr2522LeufsTer21
XM_017010950.1:c.9423_9424insCT	XP_016866439.1:p.Thr3142LeufsTer21
XR_001743469.1:n.9699_9700insCT
NM_138694.4:c.9423_9424insCT MANE Select	NP_619639.3:p.Thr3142LeufsTer21
NM_170724.3:c.9423_9424insCT	NP_733842.2:p.Thr3142LeufsTer21