Canonical Allele Identifier: CA2512744512

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748046_51748047insAACAC , CM000668.2:g.51748046_51748047insAACAC	GRCh38
NC_000006.11:g.51612844_51612845insAACAC , CM000668.1:g.51612844_51612845insAACAC	GRCh37
NC_000006.10:g.51720803_51720804insAACAC	NCBI36
NG_008753.1:g.344579_344580insGTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9569_9570insGTGTT MANE Select	ENSP00000360158.3:p.Asn3191CysfsTer2
ENST00000340994.4:c.9569_9570insGTGTT	ENSP00000341097.4:p.Asn3191CysfsTer2
ENST00000371117.7:c.9569_9570insGTGTT	ENSP00000360158.3:p.Asn3191CysfsTer2
NM_138694.3:c.9569_9570insGTGTT	NP_619639.3:p.Asn3191CysfsTer2
NM_170724.2:c.9569_9570insGTGTT	NP_733842.2:p.Asn3191CysfsTer2
XM_011514679.1:c.9569_9570insGTGTT	XP_011512981.1:p.Asn3191CysfsTer2
XM_011514680.1:c.9569_9570insGTGTT	XP_011512982.1:p.Asn3191CysfsTer2
XM_011514681.1:c.9440_9441insGTGTT	XP_011512983.1:p.Asn3148CysfsTer2
XM_011514682.1:c.9431_9432insGTGTT	XP_011512984.1:p.Asn3145CysfsTer2
XM_011514683.1:c.8927_8928insGTGTT	XP_011512985.1:p.Asn2977CysfsTer2
XM_011514684.1:c.8858_8859insGTGTT	XP_011512986.1:p.Asn2954CysfsTer2
XM_011514685.1:c.9569_9570insGTGTT	XP_011512987.1:p.Asn3191CysfsTer2
XM_011514686.1:c.9569_9570insGTGTT	XP_011512988.1:p.Asn3191CysfsTer2
XM_011514687.1:c.9569_9570insGTGTT	XP_011512989.1:p.Asn3191CysfsTer2
XM_011514688.1:c.9569_9570insGTGTT	XP_011512990.1:p.Asn3191CysfsTer2
XM_011514690.1:c.3644_3645insGTGTT	XP_011512992.1:p.Asn1216CysfsTer2
XM_011514691.1:c.3644_3645insGTGTT	XP_011512993.1:p.Asn1216CysfsTer2
XM_011514680.3:c.9569_9570insGTGTT	XP_011512982.1:p.Asn3191CysfsTer2
XM_011514682.3:c.9431_9432insGTGTT	XP_011512984.1:p.Asn3145CysfsTer2
XM_011514683.3:c.8927_8928insGTGTT	XP_011512985.1:p.Asn2977CysfsTer2
XM_011514684.3:c.8858_8859insGTGTT	XP_011512986.1:p.Asn2954CysfsTer2
XM_011514686.2:c.9569_9570insGTGTT	XP_011512988.1:p.Asn3191CysfsTer2
XM_011514688.2:c.9569_9570insGTGTT	XP_011512990.1:p.Asn3191CysfsTer2
XM_011514690.3:c.3644_3645insGTGTT	XP_011512992.1:p.Asn1216CysfsTer2
XM_011514691.3:c.3644_3645insGTGTT	XP_011512993.1:p.Asn1216CysfsTer2
XM_017010944.2:c.9569_9570insGTGTT	XP_016866433.1:p.Asn3191CysfsTer2
XM_017010945.2:c.9494_9495insGTGTT	XP_016866434.1:p.Asn3166CysfsTer2
XM_017010946.2:c.9374_9375insGTGTT	XP_016866435.1:p.Asn3126CysfsTer2
XM_017010947.2:c.9305_9306insGTGTT	XP_016866436.1:p.Asn3103CysfsTer2
XM_017010948.2:c.8858_8859insGTGTT	XP_016866437.1:p.Asn2954CysfsTer2
XM_017010949.2:c.7709_7710insGTGTT	XP_016866438.1:p.Asn2571CysfsTer2
XM_017010950.1:c.9569_9570insGTGTT	XP_016866439.1:p.Asn3191CysfsTer2
XR_001743469.1:n.9845_9846insGTGTT
NM_138694.4:c.9569_9570insGTGTT MANE Select	NP_619639.3:p.Asn3191CysfsTer2
NM_170724.3:c.9569_9570insGTGTT	NP_733842.2:p.Asn3191CysfsTer2