Canonical Allele Identifier: CA1628510180

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51753318_51753319delinsGA , CM000668.2:g.51753318_51753319delinsGA	GRCh38
NC_000006.11:g.51618116_51618117delinsGA , CM000668.1:g.51618116_51618117delinsGA	GRCh37
NC_000006.10:g.51726075_51726076delinsGA	NCBI36
NG_008753.1:g.339307_339308delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.8832_8833delinsTC MANE Select	ENSP00000360158.3:p.Ile2944=
ENST00000340994.4:c.8832_8833delinsTC	ENSP00000341097.4:p.Ile2944=
ENST00000371117.7:c.8832_8833delinsTC	ENSP00000360158.3:p.Ile2944=
NM_138694.3:c.8832_8833delinsTC	NP_619639.3:p.Ile2944=
NM_170724.2:c.8832_8833delinsTC	NP_733842.2:p.Ile2944=
XM_011514679.1:c.8832_8833delinsTC	XP_011512981.1:p.Ile2944=
XM_011514680.1:c.8832_8833delinsTC	XP_011512982.1:p.Ile2944=
XM_011514681.1:c.8703_8704delinsTC	XP_011512983.1:p.Ile2901=
XM_011514682.1:c.8694_8695delinsTC	XP_011512984.1:p.Ile2898=
XM_011514683.1:c.8190_8191delinsTC	XP_011512985.1:p.Ile2730=
XM_011514684.1:c.8121_8122delinsTC	XP_011512986.1:p.Ile2707=
XM_011514685.1:c.8832_8833delinsTC	XP_011512987.1:p.Ile2944=
XM_011514686.1:c.8832_8833delinsTC	XP_011512988.1:p.Ile2944=
XM_011514687.1:c.8832_8833delinsTC	XP_011512989.1:p.Ile2944=
XM_011514688.1:c.8832_8833delinsTC	XP_011512990.1:p.Ile2944=
XM_011514690.1:c.2907_2908delinsTC	XP_011512992.1:p.Ile969=
XM_011514691.1:c.2907_2908delinsTC	XP_011512993.1:p.Ile969=
XM_011514680.3:c.8832_8833delinsTC	XP_011512982.1:p.Ile2944=
XM_011514682.3:c.8694_8695delinsTC	XP_011512984.1:p.Ile2898=
XM_011514683.3:c.8190_8191delinsTC	XP_011512985.1:p.Ile2730=
XM_011514684.3:c.8121_8122delinsTC	XP_011512986.1:p.Ile2707=
XM_011514686.2:c.8832_8833delinsTC	XP_011512988.1:p.Ile2944=
XM_011514688.2:c.8832_8833delinsTC	XP_011512990.1:p.Ile2944=
XM_011514690.3:c.2907_2908delinsTC	XP_011512992.1:p.Ile969=
XM_011514691.3:c.2907_2908delinsTC	XP_011512993.1:p.Ile969=
XM_017010944.2:c.8832_8833delinsTC	XP_016866433.1:p.Ile2944=
XM_017010945.2:c.8757_8758delinsTC	XP_016866434.1:p.Ile2919=
XM_017010946.2:c.8637_8638delinsTC	XP_016866435.1:p.Ile2879=
XM_017010947.2:c.8568_8569delinsTC	XP_016866436.1:p.Ile2856=
XM_017010948.2:c.8121_8122delinsTC	XP_016866437.1:p.Ile2707=
XM_017010949.2:c.6972_6973delinsTC	XP_016866438.1:p.Ile2324=
XM_017010950.1:c.8832_8833delinsTC	XP_016866439.1:p.Ile2944=
XM_017010951.1:c.*1436_*1437delinsTC	XP_016866440.1:n.*1436_*1437delinsTC
XR_001743469.1:n.9108_9109delinsTC
NM_138694.4:c.8832_8833delinsTC MANE Select	NP_619639.3:p.Ile2944=
NM_170724.3:c.8832_8833delinsTC	NP_733842.2:p.Ile2944=