Canonical Allele Identifier: CA1628502620

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748143_51748144delinsAT , CM000668.2:g.51748143_51748144delinsAT	GRCh38
NC_000006.11:g.51612941_51612942delinsAT , CM000668.1:g.51612941_51612942delinsAT	GRCh37
NC_000006.10:g.51720900_51720901delinsAT	NCBI36
NG_008753.1:g.344482_344483delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9472_9473delinsAT MANE Select	ENSP00000360158.3:p.Met3158=
ENST00000340994.4:c.9472_9473delinsAT	ENSP00000341097.4:p.Met3158=
ENST00000371117.7:c.9472_9473delinsAT	ENSP00000360158.3:p.Met3158=
NM_138694.3:c.9472_9473delinsAT	NP_619639.3:p.Met3158=
NM_170724.2:c.9472_9473delinsAT	NP_733842.2:p.Met3158=
XM_011514679.1:c.9472_9473delinsAT	XP_011512981.1:p.Met3158=
XM_011514680.1:c.9472_9473delinsAT	XP_011512982.1:p.Met3158=
XM_011514681.1:c.9343_9344delinsAT	XP_011512983.1:p.Met3115=
XM_011514682.1:c.9334_9335delinsAT	XP_011512984.1:p.Met3112=
XM_011514683.1:c.8830_8831delinsAT	XP_011512985.1:p.Met2944=
XM_011514684.1:c.8761_8762delinsAT	XP_011512986.1:p.Met2921=
XM_011514685.1:c.9472_9473delinsAT	XP_011512987.1:p.Met3158=
XM_011514686.1:c.9472_9473delinsAT	XP_011512988.1:p.Met3158=
XM_011514687.1:c.9472_9473delinsAT	XP_011512989.1:p.Met3158=
XM_011514688.1:c.9472_9473delinsAT	XP_011512990.1:p.Met3158=
XM_011514690.1:c.3547_3548delinsAT	XP_011512992.1:p.Met1183=
XM_011514691.1:c.3547_3548delinsAT	XP_011512993.1:p.Met1183=
XM_011514680.3:c.9472_9473delinsAT	XP_011512982.1:p.Met3158=
XM_011514682.3:c.9334_9335delinsAT	XP_011512984.1:p.Met3112=
XM_011514683.3:c.8830_8831delinsAT	XP_011512985.1:p.Met2944=
XM_011514684.3:c.8761_8762delinsAT	XP_011512986.1:p.Met2921=
XM_011514686.2:c.9472_9473delinsAT	XP_011512988.1:p.Met3158=
XM_011514688.2:c.9472_9473delinsAT	XP_011512990.1:p.Met3158=
XM_011514690.3:c.3547_3548delinsAT	XP_011512992.1:p.Met1183=
XM_011514691.3:c.3547_3548delinsAT	XP_011512993.1:p.Met1183=
XM_017010944.2:c.9472_9473delinsAT	XP_016866433.1:p.Met3158=
XM_017010945.2:c.9397_9398delinsAT	XP_016866434.1:p.Met3133=
XM_017010946.2:c.9277_9278delinsAT	XP_016866435.1:p.Met3093=
XM_017010947.2:c.9208_9209delinsAT	XP_016866436.1:p.Met3070=
XM_017010948.2:c.8761_8762delinsAT	XP_016866437.1:p.Met2921=
XM_017010949.2:c.7612_7613delinsAT	XP_016866438.1:p.Met2538=
XM_017010950.1:c.9472_9473delinsAT	XP_016866439.1:p.Met3158=
XR_001743469.1:n.9748_9749delinsAT
NM_138694.4:c.9472_9473delinsAT MANE Select	NP_619639.3:p.Met3158=
NM_170724.3:c.9472_9473delinsAT	NP_733842.2:p.Met3158=