Canonical Allele Identifier: CA10622396

Gene: PKHD1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51616541_51616542dup , CM000668.2:g.51616541_51616542dup	GRCh38
NC_000006.11:g.51481339_51481340dup , CM000668.1:g.51481339_51481340dup	GRCh37
NC_000006.10:g.51589298_51589299dup	NCBI36
NG_008753.1:g.476097_476098dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.*2552_*2553dup MANE Select	ENSP00000360158.3:n.*2552_*2553dup
ENST00000371117.7:c.*2552_*2553dup	ENSP00000360158.3:n.*2552_*2553dup
NM_138694.3:c.*2552_*2553dup	NP_619639.3:n.*2552_*2553dup
XM_011514679.1:c.*2552_*2553dup	XP_011512981.1:n.*2552_*2553dup
XM_011514680.1:c.*2552_*2553dup	XP_011512982.1:n.*2552_*2553dup
XM_011514681.1:c.*2552_*2553dup	XP_011512983.1:n.*2552_*2553dup
XM_011514682.1:c.*2552_*2553dup	XP_011512984.1:n.*2552_*2553dup
XM_011514683.1:c.*2552_*2553dup	XP_011512985.1:n.*2552_*2553dup
XM_011514684.1:c.*2552_*2553dup	XP_011512986.1:n.*2552_*2553dup
XM_011514690.1:c.*2552_*2553dup	XP_011512992.1:n.*2552_*2553dup
XM_011514691.1:c.*2552_*2553dup	XP_011512993.1:n.*2552_*2553dup
XM_011514680.3:c.*2552_*2553dup	XP_011512982.1:n.*2552_*2553dup
XM_011514682.3:c.*2552_*2553dup	XP_011512984.1:n.*2552_*2553dup
XM_011514683.3:c.*2552_*2553dup	XP_011512985.1:n.*2552_*2553dup
XM_011514684.3:c.*2552_*2553dup	XP_011512986.1:n.*2552_*2553dup
XM_011514690.3:c.*2552_*2553dup	XP_011512992.1:n.*2552_*2553dup
XM_011514691.3:c.*2552_*2553dup	XP_011512993.1:n.*2552_*2553dup
XM_017010944.2:c.*2552_*2553dup	XP_016866433.1:n.*2552_*2553dup
XM_017010945.2:c.*2552_*2553dup	XP_016866434.1:n.*2552_*2553dup
XM_017010946.2:c.*2552_*2553dup	XP_016866435.1:n.*2552_*2553dup
XM_017010947.2:c.*2552_*2553dup	XP_016866436.1:n.*2552_*2553dup
XM_017010948.2:c.*2552_*2553dup	XP_016866437.1:n.*2552_*2553dup
XM_017010949.2:c.*2552_*2553dup	XP_016866438.1:n.*2552_*2553dup
NM_138694.4:c.*2552_*2553dup MANE Select	NP_619639.3:n.*2552_*2553dup