Canonical Allele Identifier: CA3054209577

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52050158_52050159delinsAC , CM000668.2:g.52050158_52050159delinsAC	GRCh38
NC_000006.11:g.51914956_51914957delinsAC , CM000668.1:g.51914956_51914957delinsAC	GRCh37
NC_000006.10:g.52022915_52022916delinsAC	NCBI36
NG_008753.1:g.42467_42468delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.2277_2278delinsGT MANE Select	ENSP00000360158.3:p.Arg760Cys
ENST00000340994.4:c.2277_2278delinsGT	ENSP00000341097.4:p.Arg760Cys
ENST00000371117.7:c.2277_2278delinsGT	ENSP00000360158.3:p.Arg760Cys
NM_138694.3:c.2277_2278delinsGT	NP_619639.3:p.Arg760Cys
NM_170724.2:c.2277_2278delinsGT	NP_733842.2:p.Arg760Cys
XM_011514679.1:c.2277_2278delinsGT	XP_011512981.1:p.Arg760Cys
XM_011514680.1:c.2277_2278delinsGT	XP_011512982.1:p.Arg760Cys
XM_011514681.1:c.2277_2278delinsGT	XP_011512983.1:p.Arg760Cys
XM_011514682.1:c.2277_2278delinsGT	XP_011512984.1:p.Arg760Cys
XM_011514683.1:c.2277_2278delinsGT	XP_011512985.1:p.Arg760Cys
XM_011514684.1:c.1566_1567delinsGT	XP_011512986.1:p.Arg523Cys
XM_011514685.1:c.2277_2278delinsGT	XP_011512987.1:p.Arg760Cys
XM_011514686.1:c.2277_2278delinsGT	XP_011512988.1:p.Arg760Cys
XM_011514687.1:c.2277_2278delinsGT	XP_011512989.1:p.Arg760Cys
XM_011514688.1:c.2277_2278delinsGT	XP_011512990.1:p.Arg760Cys
XM_011514689.1:c.2277_2278delinsGT	XP_011512991.1:p.Arg760Cys
XM_011514680.3:c.2277_2278delinsGT	XP_011512982.1:p.Arg760Cys
XM_011514682.3:c.2277_2278delinsGT	XP_011512984.1:p.Arg760Cys
XM_011514683.3:c.2277_2278delinsGT	XP_011512985.1:p.Arg760Cys
XM_011514684.3:c.1566_1567delinsGT	XP_011512986.1:p.Arg523Cys
XM_011514686.2:c.2277_2278delinsGT	XP_011512988.1:p.Arg760Cys
XM_011514688.2:c.2277_2278delinsGT	XP_011512990.1:p.Arg760Cys
XM_017010944.2:c.2277_2278delinsGT	XP_016866433.1:p.Arg760Cys
XM_017010945.2:c.2202_2203delinsGT	XP_016866434.1:p.Arg735Cys
XM_017010946.2:c.2277_2278delinsGT	XP_016866435.1:p.Arg760Cys
XM_017010947.2:c.2277_2278delinsGT	XP_016866436.1:p.Arg760Cys
XM_017010948.2:c.1566_1567delinsGT	XP_016866437.1:p.Arg523Cys
XM_017010949.2:c.417_418delinsGT	XP_016866438.1:p.Arg140Cys
XM_017010950.1:c.2277_2278delinsGT	XP_016866439.1:p.Arg760Cys
XM_017010951.1:c.2277_2278delinsGT	XP_016866440.1:p.Arg760Cys
XM_017010952.1:c.2277_2278delinsGT	XP_016866441.1:p.Arg760Cys
XR_001743469.1:n.2553_2554delinsGT
NM_138694.4:c.2277_2278delinsGT MANE Select	NP_619639.3:p.Arg760Cys
NM_170724.3:c.2277_2278delinsGT	NP_733842.2:p.Arg760Cys