Canonical Allele Identifier: CA913110677

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51612882dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748084dup , CM000668.2:g.51748084dup	GRCh38
NC_000006.11:g.51612882dup , CM000668.1:g.51612882dup	GRCh37
NC_000006.10:g.51720841dup	NCBI36
NG_008753.1:g.344543dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9533dup MANE Select	ENSP00000360158.3:p.Leu3179SerfsTer23
ENST00000340994.4:c.9533dup	ENSP00000341097.4:p.Leu3179SerfsTer23
ENST00000371117.7:c.9533dup	ENSP00000360158.3:p.Leu3179SerfsTer23
NM_138694.3:c.9533dup	NP_619639.3:p.Leu3179SerfsTer23
NM_170724.2:c.9533dup	NP_733842.2:p.Leu3179SerfsTer23
XM_011514679.1:c.9533dup	XP_011512981.1:p.Leu3179SerfsTer23
XM_011514680.1:c.9533dup	XP_011512982.1:p.Leu3179SerfsTer23
XM_011514681.1:c.9404dup	XP_011512983.1:p.Leu3136SerfsTer23
XM_011514682.1:c.9395dup	XP_011512984.1:p.Leu3133SerfsTer23
XM_011514683.1:c.8891dup	XP_011512985.1:p.Leu2965SerfsTer23
XM_011514684.1:c.8822dup	XP_011512986.1:p.Leu2942SerfsTer23
XM_011514685.1:c.9533dup	XP_011512987.1:p.Leu3179SerfsTer23
XM_011514686.1:c.9533dup	XP_011512988.1:p.Leu3179SerfsTer23
XM_011514687.1:c.9533dup	XP_011512989.1:p.Leu3179SerfsTer23
XM_011514688.1:c.9533dup	XP_011512990.1:p.Leu3179SerfsTer23
XM_011514690.1:c.3608dup	XP_011512992.1:p.Leu1204SerfsTer23
XM_011514691.1:c.3608dup	XP_011512993.1:p.Leu1204SerfsTer23
XM_011514680.3:c.9533dup	XP_011512982.1:p.Leu3179SerfsTer23
XM_011514682.3:c.9395dup	XP_011512984.1:p.Leu3133SerfsTer23
XM_011514683.3:c.8891dup	XP_011512985.1:p.Leu2965SerfsTer23
XM_011514684.3:c.8822dup	XP_011512986.1:p.Leu2942SerfsTer23
XM_011514686.2:c.9533dup	XP_011512988.1:p.Leu3179SerfsTer23
XM_011514688.2:c.9533dup	XP_011512990.1:p.Leu3179SerfsTer23
XM_011514690.3:c.3608dup	XP_011512992.1:p.Leu1204SerfsTer23
XM_011514691.3:c.3608dup	XP_011512993.1:p.Leu1204SerfsTer23
XM_017010944.2:c.9533dup	XP_016866433.1:p.Leu3179SerfsTer23
XM_017010945.2:c.9458dup	XP_016866434.1:p.Leu3154SerfsTer23
XM_017010946.2:c.9338dup	XP_016866435.1:p.Leu3114SerfsTer23
XM_017010947.2:c.9269dup	XP_016866436.1:p.Leu3091SerfsTer23
XM_017010948.2:c.8822dup	XP_016866437.1:p.Leu2942SerfsTer23
XM_017010949.2:c.7673dup	XP_016866438.1:p.Leu2559SerfsTer23
XM_017010950.1:c.9533dup	XP_016866439.1:p.Leu3179SerfsTer23
XR_001743469.1:n.9809dup
NM_138694.4:c.9533dup MANE Select	NP_619639.3:p.Leu3179SerfsTer23
NM_170724.3:c.9533dup	NP_733842.2:p.Leu3179SerfsTer23