Canonical Allele Identifier: CA2739273096

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51753278_51753282del , CM000668.2:g.51753278_51753282del	GRCh38
NC_000006.11:g.51618076_51618080del , CM000668.1:g.51618076_51618080del	GRCh37
NC_000006.10:g.51726035_51726039del	NCBI36
NG_008753.1:g.339345_339349del

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.8870_8874del MANE Select	NP_619639.3:p.Ile2957AsnfsTer4
ENST00000371117.8:c.8870_8874del MANE Select	ENSP00000360158.3:p.Ile2957AsnfsTer4
NM_138694.3:c.8870_8874del	NP_619639.3:p.Ile2957AsnfsTer4
NM_170724.2:c.8870_8874del	NP_733842.2:p.Ile2957AsnfsTer4
NM_170724.3:c.8870_8874del	NP_733842.2:p.Ile2957AsnfsTer4
ENST00000340994.4:c.8870_8874del	ENSP00000341097.4:p.Ile2957AsnfsTer4
ENST00000371117.7:c.8870_8874del	ENSP00000360158.3:p.Ile2957AsnfsTer4
XM_011514679.1:c.8870_8874del	XP_011512981.1:p.Ile2957AsnfsTer4
XM_011514680.1:c.8870_8874del	XP_011512982.1:p.Ile2957AsnfsTer4
XM_011514680.3:c.8870_8874del	XP_011512982.1:p.Ile2957AsnfsTer4
XM_011514681.1:c.8741_8745del	XP_011512983.1:p.Ile2914AsnfsTer4
XM_011514682.1:c.8732_8736del	XP_011512984.1:p.Ile2911AsnfsTer4
XM_011514682.3:c.8732_8736del	XP_011512984.1:p.Ile2911AsnfsTer4
XM_011514683.1:c.8228_8232del	XP_011512985.1:p.Ile2743AsnfsTer4
XM_011514683.3:c.8228_8232del	XP_011512985.1:p.Ile2743AsnfsTer4
XM_011514684.1:c.8159_8163del	XP_011512986.1:p.Ile2720AsnfsTer4
XM_011514684.3:c.8159_8163del	XP_011512986.1:p.Ile2720AsnfsTer4
XM_011514685.1:c.8870_8874del	XP_011512987.1:p.Ile2957AsnfsTer4
XM_011514686.1:c.8870_8874del	XP_011512988.1:p.Ile2957AsnfsTer4
XM_011514686.2:c.8870_8874del	XP_011512988.1:p.Ile2957AsnfsTer4
XM_011514687.1:c.8870_8874del	XP_011512989.1:p.Ile2957AsnfsTer4
XM_011514688.1:c.8870_8874del	XP_011512990.1:p.Ile2957AsnfsTer4
XM_011514688.2:c.8870_8874del	XP_011512990.1:p.Ile2957AsnfsTer4
XM_011514690.1:c.2945_2949del	XP_011512992.1:p.Ile982AsnfsTer4
XM_011514690.3:c.2945_2949del	XP_011512992.1:p.Ile982AsnfsTer4
XM_011514691.1:c.2945_2949del	XP_011512993.1:p.Ile982AsnfsTer4
XM_011514691.3:c.2945_2949del	XP_011512993.1:p.Ile982AsnfsTer4
XM_017010944.2:c.8870_8874del	XP_016866433.1:p.Ile2957AsnfsTer4
XM_017010945.2:c.8795_8799del	XP_016866434.1:p.Ile2932AsnfsTer4
XM_017010946.2:c.8675_8679del	XP_016866435.1:p.Ile2892AsnfsTer4
XM_017010947.2:c.8606_8610del	XP_016866436.1:p.Ile2869AsnfsTer4
XM_017010948.2:c.8159_8163del	XP_016866437.1:p.Ile2720AsnfsTer4
XM_017010949.2:c.7010_7014del	XP_016866438.1:p.Ile2337AsnfsTer4
XM_017010950.1:c.8870_8874del	XP_016866439.1:p.Ile2957AsnfsTer4
XM_017010951.1:c.*1474_*1478del	XP_016866440.1:n.*1474_*1478del
XR_001743469.1:n.9146_9150del