Canonical Allele Identifier: CA2543648547

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52069759_52069760insAATTTTATATA , CM000668.2:g.52069759_52069760insAATTTTATATA	GRCh38
NC_000006.11:g.51934557_51934558insAATTTTATATA , CM000668.1:g.51934557_51934558insAATTTTATATA	GRCh37
NC_000006.10:g.52042516_52042517insAATTTTATATA	NCBI36
NG_008753.1:g.22866_22867insTATATAAAATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.708-233_708-232insTATATAAAATT MANE Select	ENSP00000360158.3:n.708-233_708-232insTATATAAAATT
ENST00000340994.4:c.708-233_708-232insTATATAAAATT	ENSP00000341097.4:n.708-233_708-232insTATATAAAATT
ENST00000371117.7:c.708-233_708-232insTATATAAAATT	ENSP00000360158.3:n.708-233_708-232insTATATAAAATT
NM_138694.3:c.708-233_708-232insTATATAAAATT	NP_619639.3:n.708-233_708-232insTATATAAAATT
NM_170724.2:c.708-233_708-232insTATATAAAATT	NP_733842.2:n.708-233_708-232insTATATAAAATT
XM_011514679.1:c.708-233_708-232insTATATAAAATT	XP_011512981.1:n.708-233_708-232insTATATAAAATT
XM_011514680.1:c.708-233_708-232insTATATAAAATT	XP_011512982.1:n.708-233_708-232insTATATAAAATT
XM_011514681.1:c.708-233_708-232insTATATAAAATT	XP_011512983.1:n.708-233_708-232insTATATAAAATT
XM_011514682.1:c.708-233_708-232insTATATAAAATT	XP_011512984.1:n.708-233_708-232insTATATAAAATT
XM_011514683.1:c.708-233_708-232insTATATAAAATT	XP_011512985.1:n.708-233_708-232insTATATAAAATT
XM_011514684.1:c.-4-233_-4-232insTATATAAAATT	XP_011512986.1:n.-4-233_-4-232insTATATAAAATT
XM_011514685.1:c.708-233_708-232insTATATAAAATT	XP_011512987.1:n.708-233_708-232insTATATAAAATT
XM_011514686.1:c.708-233_708-232insTATATAAAATT	XP_011512988.1:n.708-233_708-232insTATATAAAATT
XM_011514687.1:c.708-233_708-232insTATATAAAATT	XP_011512989.1:n.708-233_708-232insTATATAAAATT
XM_011514688.1:c.708-233_708-232insTATATAAAATT	XP_011512990.1:n.708-233_708-232insTATATAAAATT
XM_011514689.1:c.708-233_708-232insTATATAAAATT	XP_011512991.1:n.708-233_708-232insTATATAAAATT
XR_926869.1:n.389+563_389+564insAATTTTATATA
XM_011514680.3:c.708-233_708-232insTATATAAAATT	XP_011512982.1:n.708-233_708-232insTATATAAAATT
XM_011514682.3:c.708-233_708-232insTATATAAAATT	XP_011512984.1:n.708-233_708-232insTATATAAAATT
XM_011514683.3:c.708-233_708-232insTATATAAAATT	XP_011512985.1:n.708-233_708-232insTATATAAAATT
XM_011514684.3:c.-4-233_-4-232insTATATAAAATT	XP_011512986.1:n.-4-233_-4-232insTATATAAAATT
XM_011514686.2:c.708-233_708-232insTATATAAAATT	XP_011512988.1:n.708-233_708-232insTATATAAAATT
XM_011514688.2:c.708-233_708-232insTATATAAAATT	XP_011512990.1:n.708-233_708-232insTATATAAAATT
XM_017010944.2:c.708-233_708-232insTATATAAAATT	XP_016866433.1:n.708-233_708-232insTATATAAAATT
XM_017010945.2:c.633-233_633-232insTATATAAAATT	XP_016866434.1:n.633-233_633-232insTATATAAAATT
XM_017010946.2:c.708-233_708-232insTATATAAAATT	XP_016866435.1:n.708-233_708-232insTATATAAAATT
XM_017010947.2:c.708-233_708-232insTATATAAAATT	XP_016866436.1:n.708-233_708-232insTATATAAAATT
XM_017010948.2:c.-143_-142insTATATAAAATT	XP_016866437.1:n.-143_-142insTATATAAAATT
XM_017010950.1:c.708-233_708-232insTATATAAAATT	XP_016866439.1:n.708-233_708-232insTATATAAAATT
XM_017010951.1:c.708-233_708-232insTATATAAAATT	XP_016866440.1:n.708-233_708-232insTATATAAAATT
XM_017010952.1:c.708-233_708-232insTATATAAAATT	XP_016866441.1:n.708-233_708-232insTATATAAAATT
XR_001743469.1:n.984-233_984-232insTATATAAAATT
NM_138694.4:c.708-233_708-232insTATATAAAATT MANE Select	NP_619639.3:n.708-233_708-232insTATATAAAATT
NM_170724.3:c.708-233_708-232insTATATAAAATT	NP_733842.2:n.708-233_708-232insTATATAAAATT