Canonical Allele Identifier: CA1628502814

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748229_51748230delinsGC , CM000668.2:g.51748229_51748230delinsGC	GRCh38
NC_000006.11:g.51613027_51613028delinsGC , CM000668.1:g.51613027_51613028delinsGC	GRCh37
NC_000006.10:g.51720986_51720987delinsGC	NCBI36
NG_008753.1:g.344396_344397delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9386_9387delinsGC MANE Select	ENSP00000360158.3:p.Gly3129=
ENST00000340994.4:c.9386_9387delinsGC	ENSP00000341097.4:p.Gly3129=
ENST00000371117.7:c.9386_9387delinsGC	ENSP00000360158.3:p.Gly3129=
NM_138694.3:c.9386_9387delinsGC	NP_619639.3:p.Gly3129=
NM_170724.2:c.9386_9387delinsGC	NP_733842.2:p.Gly3129=
XM_011514679.1:c.9386_9387delinsGC	XP_011512981.1:p.Gly3129=
XM_011514680.1:c.9386_9387delinsGC	XP_011512982.1:p.Gly3129=
XM_011514681.1:c.9257_9258delinsGC	XP_011512983.1:p.Gly3086=
XM_011514682.1:c.9248_9249delinsGC	XP_011512984.1:p.Gly3083=
XM_011514683.1:c.8744_8745delinsGC	XP_011512985.1:p.Gly2915=
XM_011514684.1:c.8675_8676delinsGC	XP_011512986.1:p.Gly2892=
XM_011514685.1:c.9386_9387delinsGC	XP_011512987.1:p.Gly3129=
XM_011514686.1:c.9386_9387delinsGC	XP_011512988.1:p.Gly3129=
XM_011514687.1:c.9386_9387delinsGC	XP_011512989.1:p.Gly3129=
XM_011514688.1:c.9386_9387delinsGC	XP_011512990.1:p.Gly3129=
XM_011514690.1:c.3461_3462delinsGC	XP_011512992.1:p.Gly1154=
XM_011514691.1:c.3461_3462delinsGC	XP_011512993.1:p.Gly1154=
XM_011514680.3:c.9386_9387delinsGC	XP_011512982.1:p.Gly3129=
XM_011514682.3:c.9248_9249delinsGC	XP_011512984.1:p.Gly3083=
XM_011514683.3:c.8744_8745delinsGC	XP_011512985.1:p.Gly2915=
XM_011514684.3:c.8675_8676delinsGC	XP_011512986.1:p.Gly2892=
XM_011514686.2:c.9386_9387delinsGC	XP_011512988.1:p.Gly3129=
XM_011514688.2:c.9386_9387delinsGC	XP_011512990.1:p.Gly3129=
XM_011514690.3:c.3461_3462delinsGC	XP_011512992.1:p.Gly1154=
XM_011514691.3:c.3461_3462delinsGC	XP_011512993.1:p.Gly1154=
XM_017010944.2:c.9386_9387delinsGC	XP_016866433.1:p.Gly3129=
XM_017010945.2:c.9311_9312delinsGC	XP_016866434.1:p.Gly3104=
XM_017010946.2:c.9191_9192delinsGC	XP_016866435.1:p.Gly3064=
XM_017010947.2:c.9122_9123delinsGC	XP_016866436.1:p.Gly3041=
XM_017010948.2:c.8675_8676delinsGC	XP_016866437.1:p.Gly2892=
XM_017010949.2:c.7526_7527delinsGC	XP_016866438.1:p.Gly2509=
XM_017010950.1:c.9386_9387delinsGC	XP_016866439.1:p.Gly3129=
XR_001743469.1:n.9662_9663delinsGC
NM_138694.4:c.9386_9387delinsGC MANE Select	NP_619639.3:p.Gly3129=
NM_170724.3:c.9386_9387delinsGC	NP_733842.2:p.Gly3129=