Canonical Allele Identifier: CA1139659317

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 974456
• ClinVar RCV Id: RCV001281215
• dbSNP Id: rs1785501068

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748268del , CM000668.2:g.51748268del	GRCh38
NC_000006.11:g.51613066del , CM000668.1:g.51613066del	GRCh37
NC_000006.10:g.51721025del	NCBI36
NG_008753.1:g.344358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9348del MANE Select	ENSP00000360158.3:p.Leu3117PhefsTer?
ENST00000340994.4:c.9348del	ENSP00000341097.4:p.Leu3117PhefsTer?
ENST00000371117.7:c.9348del	ENSP00000360158.3:p.Leu3117PhefsTer?
NM_138694.3:c.9348del	NP_619639.3:p.Leu3117PhefsTer?
NM_170724.2:c.9348del	NP_733842.2:p.Leu3117PhefsTer?
XM_011514679.1:c.9348del	XP_011512981.1:p.Leu3117PhefsTer?
XM_011514680.1:c.9348del	XP_011512982.1:p.Leu3117PhefsTer?
XM_011514681.1:c.9219del	XP_011512983.1:p.Leu3074PhefsTer?
XM_011514682.1:c.9210del	XP_011512984.1:p.Leu3071PhefsTer?
XM_011514683.1:c.8706del	XP_011512985.1:p.Leu2903PhefsTer?
XM_011514684.1:c.8637del	XP_011512986.1:p.Leu2880PhefsTer?
XM_011514685.1:c.9348del	XP_011512987.1:p.Leu3117PhefsTer?
XM_011514686.1:c.9348del	XP_011512988.1:p.Leu3117PhefsTer?
XM_011514687.1:c.9348del	XP_011512989.1:p.Leu3117PhefsTer?
XM_011514688.1:c.9348del	XP_011512990.1:p.Leu3117PhefsTer?
XM_011514690.1:c.3423del	XP_011512992.1:p.Leu1142PhefsTer?
XM_011514691.1:c.3423del	XP_011512993.1:p.Leu1142PhefsTer?
XM_011514680.3:c.9348del	XP_011512982.1:p.Leu3117PhefsTer?
XM_011514682.3:c.9210del	XP_011512984.1:p.Leu3071PhefsTer?
XM_011514683.3:c.8706del	XP_011512985.1:p.Leu2903PhefsTer?
XM_011514684.3:c.8637del	XP_011512986.1:p.Leu2880PhefsTer?
XM_011514686.2:c.9348del	XP_011512988.1:p.Leu3117PhefsTer?
XM_011514688.2:c.9348del	XP_011512990.1:p.Leu3117PhefsTer?
XM_011514690.3:c.3423del	XP_011512992.1:p.Leu1142PhefsTer?
XM_011514691.3:c.3423del	XP_011512993.1:p.Leu1142PhefsTer?
XM_017010944.2:c.9348del	XP_016866433.1:p.Leu3117PhefsTer?
XM_017010945.2:c.9273del	XP_016866434.1:p.Leu3092PhefsTer?
XM_017010946.2:c.9153del	XP_016866435.1:p.Leu3052PhefsTer?
XM_017010947.2:c.9084del	XP_016866436.1:p.Leu3029PhefsTer?
XM_017010948.2:c.8637del	XP_016866437.1:p.Leu2880PhefsTer?
XM_017010949.2:c.7488del	XP_016866438.1:p.Leu2497PhefsTer?
XM_017010950.1:c.9348del	XP_016866439.1:p.Leu3117PhefsTer?
XR_001743469.1:n.9624del
NM_138694.4:c.9348del MANE Select	NP_619639.3:p.Leu3117PhefsTer?
NM_170724.3:c.9348del	NP_733842.2:p.Leu3117PhefsTer?