Canonical Allele Identifier: CA1628469291

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627006_51627008delinsCCA , CM000668.2:g.51627006_51627008delinsCCA	GRCh38
NC_000006.11:g.51491804_51491806delinsCCA , CM000668.1:g.51491804_51491806delinsCCA	GRCh37
NC_000006.10:g.51599763_51599765delinsCCA	NCBI36
NG_008753.1:g.465618_465620delinsTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11774_11776delinsTGG MANE Select	ENSP00000360158.3:p.Val3925=
ENST00000371117.7:c.11774_11776delinsTGG	ENSP00000360158.3:p.Val3925=
NM_138694.3:c.11774_11776delinsTGG	NP_619639.3:p.Val3925=
XM_011514679.1:c.11774_11776delinsTGG	XP_011512981.1:p.Val3925=
XM_011514680.1:c.11774_11776delinsTGG	XP_011512982.1:p.Val3925=
XM_011514681.1:c.11645_11647delinsTGG	XP_011512983.1:p.Val3882=
XM_011514682.1:c.11636_11638delinsTGG	XP_011512984.1:p.Val3879=
XM_011514683.1:c.11132_11134delinsTGG	XP_011512985.1:p.Val3711=
XM_011514684.1:c.11063_11065delinsTGG	XP_011512986.1:p.Val3688=
XM_011514690.1:c.5849_5851delinsTGG	XP_011512992.1:p.Val1950=
XM_011514691.1:c.5849_5851delinsTGG	XP_011512993.1:p.Val1950=
XM_011514680.3:c.11774_11776delinsTGG	XP_011512982.1:p.Val3925=
XM_011514682.3:c.11636_11638delinsTGG	XP_011512984.1:p.Val3879=
XM_011514683.3:c.11132_11134delinsTGG	XP_011512985.1:p.Val3711=
XM_011514684.3:c.11063_11065delinsTGG	XP_011512986.1:p.Val3688=
XM_011514690.3:c.5849_5851delinsTGG	XP_011512992.1:p.Val1950=
XM_011514691.3:c.5849_5851delinsTGG	XP_011512993.1:p.Val1950=
XM_017010944.2:c.11774_11776delinsTGG	XP_016866433.1:p.Val3925=
XM_017010945.2:c.11699_11701delinsTGG	XP_016866434.1:p.Val3900=
XM_017010946.2:c.11579_11581delinsTGG	XP_016866435.1:p.Val3860=
XM_017010947.2:c.11510_11512delinsTGG	XP_016866436.1:p.Val3837=
XM_017010948.2:c.11063_11065delinsTGG	XP_016866437.1:p.Val3688=
XM_017010949.2:c.9914_9916delinsTGG	XP_016866438.1:p.Val3305=
NM_138694.4:c.11774_11776delinsTGG MANE Select	NP_619639.3:p.Val3925=