Canonical Allele Identifier: CA2679076441

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51627027-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627030del , CM000668.2:g.51627030del	GRCh38
NC_000006.11:g.51491828del , CM000668.1:g.51491828del	GRCh37
NC_000006.10:g.51599787del	NCBI36
NG_008753.1:g.465598del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11754del MANE Select	ENSP00000360158.3:p.Glu3922LysfsTer9
ENST00000371117.7:c.11754del	ENSP00000360158.3:p.Glu3922LysfsTer9
NM_138694.3:c.11754del	NP_619639.3:p.Glu3922LysfsTer9
XM_011514679.1:c.11754del	XP_011512981.1:p.Glu3922LysfsTer9
XM_011514680.1:c.11754del	XP_011512982.1:p.Glu3922LysfsTer9
XM_011514681.1:c.11625del	XP_011512983.1:p.Glu3879LysfsTer9
XM_011514682.1:c.11616del	XP_011512984.1:p.Glu3876LysfsTer9
XM_011514683.1:c.11112del	XP_011512985.1:p.Glu3708LysfsTer9
XM_011514684.1:c.11043del	XP_011512986.1:p.Glu3685LysfsTer9
XM_011514690.1:c.5829del	XP_011512992.1:p.Glu1947LysfsTer9
XM_011514691.1:c.5829del	XP_011512993.1:p.Glu1947LysfsTer9
XM_011514680.3:c.11754del	XP_011512982.1:p.Glu3922LysfsTer9
XM_011514682.3:c.11616del	XP_011512984.1:p.Glu3876LysfsTer9
XM_011514683.3:c.11112del	XP_011512985.1:p.Glu3708LysfsTer9
XM_011514684.3:c.11043del	XP_011512986.1:p.Glu3685LysfsTer9
XM_011514690.3:c.5829del	XP_011512992.1:p.Glu1947LysfsTer9
XM_011514691.3:c.5829del	XP_011512993.1:p.Glu1947LysfsTer9
XM_017010944.2:c.11754del	XP_016866433.1:p.Glu3922LysfsTer9
XM_017010945.2:c.11679del	XP_016866434.1:p.Glu3897LysfsTer9
XM_017010946.2:c.11559del	XP_016866435.1:p.Glu3857LysfsTer9
XM_017010947.2:c.11490del	XP_016866436.1:p.Glu3834LysfsTer9
XM_017010948.2:c.11043del	XP_016866437.1:p.Glu3685LysfsTer9
XM_017010949.2:c.9894del	XP_016866438.1:p.Glu3302LysfsTer9
NM_138694.4:c.11754del MANE Select	NP_619639.3:p.Glu3922LysfsTer9