Canonical Allele Identifier: CA913110685

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524067_51524068del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659269_51659270del , CM000668.2:g.51659269_51659270del	GRCh38
NC_000006.11:g.51524067_51524068del , CM000668.1:g.51524067_51524068del	GRCh37
NC_000006.10:g.51632026_51632027del	NCBI36
NG_008753.1:g.433356_433357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10856_10857del MANE Select	ENSP00000360158.3:p.Lys3619ThrfsTer10
ENST00000371117.7:c.10856_10857del	ENSP00000360158.3:p.Lys3619ThrfsTer10
NM_138694.3:c.10856_10857del	NP_619639.3:p.Lys3619ThrfsTer10
XM_011514679.1:c.10856_10857del	XP_011512981.1:p.Lys3619ThrfsTer10
XM_011514680.1:c.10856_10857del	XP_011512982.1:p.Lys3619ThrfsTer10
XM_011514681.1:c.10727_10728del	XP_011512983.1:p.Lys3576ThrfsTer10
XM_011514682.1:c.10718_10719del	XP_011512984.1:p.Lys3573ThrfsTer10
XM_011514683.1:c.10214_10215del	XP_011512985.1:p.Lys3405ThrfsTer10
XM_011514684.1:c.10145_10146del	XP_011512986.1:p.Lys3382ThrfsTer10
XM_011514687.1:c.10157-10050_10157-10049del	XP_011512989.1:n.10157-10050_10157-10049del
XM_011514690.1:c.4931_4932del	XP_011512992.1:p.Lys1644ThrfsTer10
XM_011514691.1:c.4931_4932del	XP_011512993.1:p.Lys1644ThrfsTer10
XR_926870.1:n.535+6896_535+6897del
XR_926871.1:n.403+6896_403+6897del
XR_926872.1:n.535+6896_535+6897del
XM_011514680.3:c.10856_10857del	XP_011512982.1:p.Lys3619ThrfsTer10
XM_011514682.3:c.10718_10719del	XP_011512984.1:p.Lys3573ThrfsTer10
XM_011514683.3:c.10214_10215del	XP_011512985.1:p.Lys3405ThrfsTer10
XM_011514684.3:c.10145_10146del	XP_011512986.1:p.Lys3382ThrfsTer10
XM_011514690.3:c.4931_4932del	XP_011512992.1:p.Lys1644ThrfsTer10
XM_011514691.3:c.4931_4932del	XP_011512993.1:p.Lys1644ThrfsTer10
XM_017010944.2:c.10856_10857del	XP_016866433.1:p.Lys3619ThrfsTer10
XM_017010945.2:c.10781_10782del	XP_016866434.1:p.Lys3594ThrfsTer10
XM_017010946.2:c.10661_10662del	XP_016866435.1:p.Lys3554ThrfsTer10
XM_017010947.2:c.10592_10593del	XP_016866436.1:p.Lys3531ThrfsTer10
XM_017010948.2:c.10145_10146del	XP_016866437.1:p.Lys3382ThrfsTer10
XM_017010949.2:c.8996_8997del	XP_016866438.1:p.Lys2999ThrfsTer10
XR_001743469.1:n.11132_11133del
XR_001744157.1:n.3145+6896_3145+6897del
XR_926870.2:n.3145+6896_3145+6897del
XR_926871.2:n.3013+6896_3013+6897del
XR_926872.2:n.3145+6896_3145+6897del
NM_138694.4:c.10856_10857del MANE Select	NP_619639.3:p.Lys3619ThrfsTer10