Canonical Allele Identifier: CA913110684

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524029_51524031del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659231_51659233del , CM000668.2:g.51659231_51659233del	GRCh38
NC_000006.11:g.51524029_51524031del , CM000668.1:g.51524029_51524031del	GRCh37
NC_000006.10:g.51631988_51631990del	NCBI36
NG_008753.1:g.433393_433395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10893_10895del MANE Select	ENSP00000360158.3:p.Tyr3631Ter
ENST00000371117.7:c.10893_10895del	ENSP00000360158.3:p.Tyr3631Ter
NM_138694.3:c.10893_10895del	NP_619639.3:p.Tyr3631Ter
XM_011514679.1:c.10893_10895del	XP_011512981.1:p.Tyr3631Ter
XM_011514680.1:c.10893_10895del	XP_011512982.1:p.Tyr3631Ter
XM_011514681.1:c.10764_10766del	XP_011512983.1:p.Tyr3588Ter
XM_011514682.1:c.10755_10757del	XP_011512984.1:p.Tyr3585Ter
XM_011514683.1:c.10251_10253del	XP_011512985.1:p.Tyr3417Ter
XM_011514684.1:c.10182_10184del	XP_011512986.1:p.Tyr3394Ter
XM_011514687.1:c.10157-10013_10157-10011del	XP_011512989.1:n.10157-10013_10157-10011del
XM_011514690.1:c.4968_4970del	XP_011512992.1:p.Tyr1656Ter
XM_011514691.1:c.4968_4970del	XP_011512993.1:p.Tyr1656Ter
XR_926870.1:n.535+6858_535+6860del
XR_926871.1:n.403+6858_403+6860del
XR_926872.1:n.535+6858_535+6860del
XM_011514680.3:c.10893_10895del	XP_011512982.1:p.Tyr3631Ter
XM_011514682.3:c.10755_10757del	XP_011512984.1:p.Tyr3585Ter
XM_011514683.3:c.10251_10253del	XP_011512985.1:p.Tyr3417Ter
XM_011514684.3:c.10182_10184del	XP_011512986.1:p.Tyr3394Ter
XM_011514690.3:c.4968_4970del	XP_011512992.1:p.Tyr1656Ter
XM_011514691.3:c.4968_4970del	XP_011512993.1:p.Tyr1656Ter
XM_017010944.2:c.10893_10895del	XP_016866433.1:p.Tyr3631Ter
XM_017010945.2:c.10818_10820del	XP_016866434.1:p.Tyr3606Ter
XM_017010946.2:c.10698_10700del	XP_016866435.1:p.Tyr3566Ter
XM_017010947.2:c.10629_10631del	XP_016866436.1:p.Tyr3543Ter
XM_017010948.2:c.10182_10184del	XP_016866437.1:p.Tyr3394Ter
XM_017010949.2:c.9033_9035del	XP_016866438.1:p.Tyr3011Ter
XR_001743469.1:n.11169_11171del
XR_001744157.1:n.3145+6858_3145+6860del
XR_926870.2:n.3145+6858_3145+6860del
XR_926871.2:n.3013+6858_3013+6860del
XR_926872.2:n.3145+6858_3145+6860del
NM_138694.4:c.10893_10895del MANE Select	NP_619639.3:p.Tyr3631Ter