Canonical Allele Identifier: CA2580075436

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 1726663
• ClinVar RCV Id: RCV002310347

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748073_51748076delinsAAA , CM000668.2:g.51748073_51748076delinsAAA	GRCh38
NC_000006.11:g.51612871_51612874delinsAAA , CM000668.1:g.51612871_51612874delinsAAA	GRCh37
NC_000006.10:g.51720830_51720833delinsAAA	NCBI36
NG_008753.1:g.344550_344553delinsTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9540_9543delinsTTT MANE Select	ENSP00000360158.3:p.Leu3180PhefsTer3
ENST00000340994.4:c.9540_9543delinsTTT	ENSP00000341097.4:p.Leu3180PhefsTer3
ENST00000371117.7:c.9540_9543delinsTTT	ENSP00000360158.3:p.Leu3180PhefsTer3
NM_138694.3:c.9540_9543delinsTTT	NP_619639.3:p.Leu3180PhefsTer3
NM_170724.2:c.9540_9543delinsTTT	NP_733842.2:p.Leu3180PhefsTer3
XM_011514679.1:c.9540_9543delinsTTT	XP_011512981.1:p.Leu3180PhefsTer3
XM_011514680.1:c.9540_9543delinsTTT	XP_011512982.1:p.Leu3180PhefsTer3
XM_011514681.1:c.9411_9414delinsTTT	XP_011512983.1:p.Leu3137PhefsTer3
XM_011514682.1:c.9402_9405delinsTTT	XP_011512984.1:p.Leu3134PhefsTer3
XM_011514683.1:c.8898_8901delinsTTT	XP_011512985.1:p.Leu2966PhefsTer3
XM_011514684.1:c.8829_8832delinsTTT	XP_011512986.1:p.Leu2943PhefsTer3
XM_011514685.1:c.9540_9543delinsTTT	XP_011512987.1:p.Leu3180PhefsTer3
XM_011514686.1:c.9540_9543delinsTTT	XP_011512988.1:p.Leu3180PhefsTer3
XM_011514687.1:c.9540_9543delinsTTT	XP_011512989.1:p.Leu3180PhefsTer3
XM_011514688.1:c.9540_9543delinsTTT	XP_011512990.1:p.Leu3180PhefsTer3
XM_011514690.1:c.3615_3618delinsTTT	XP_011512992.1:p.Leu1205PhefsTer3
XM_011514691.1:c.3615_3618delinsTTT	XP_011512993.1:p.Leu1205PhefsTer3
XM_011514680.3:c.9540_9543delinsTTT	XP_011512982.1:p.Leu3180PhefsTer3
XM_011514682.3:c.9402_9405delinsTTT	XP_011512984.1:p.Leu3134PhefsTer3
XM_011514683.3:c.8898_8901delinsTTT	XP_011512985.1:p.Leu2966PhefsTer3
XM_011514684.3:c.8829_8832delinsTTT	XP_011512986.1:p.Leu2943PhefsTer3
XM_011514686.2:c.9540_9543delinsTTT	XP_011512988.1:p.Leu3180PhefsTer3
XM_011514688.2:c.9540_9543delinsTTT	XP_011512990.1:p.Leu3180PhefsTer3
XM_011514690.3:c.3615_3618delinsTTT	XP_011512992.1:p.Leu1205PhefsTer3
XM_011514691.3:c.3615_3618delinsTTT	XP_011512993.1:p.Leu1205PhefsTer3
XM_017010944.2:c.9540_9543delinsTTT	XP_016866433.1:p.Leu3180PhefsTer3
XM_017010945.2:c.9465_9468delinsTTT	XP_016866434.1:p.Leu3155PhefsTer3
XM_017010946.2:c.9345_9348delinsTTT	XP_016866435.1:p.Leu3115PhefsTer3
XM_017010947.2:c.9276_9279delinsTTT	XP_016866436.1:p.Leu3092PhefsTer3
XM_017010948.2:c.8829_8832delinsTTT	XP_016866437.1:p.Leu2943PhefsTer3
XM_017010949.2:c.7680_7683delinsTTT	XP_016866438.1:p.Leu2560PhefsTer3
XM_017010950.1:c.9540_9543delinsTTT	XP_016866439.1:p.Leu3180PhefsTer3
XR_001743469.1:n.9816_9819delinsTTT
NM_138694.4:c.9540_9543delinsTTT MANE Select	NP_619639.3:p.Leu3180PhefsTer3
NM_170724.3:c.9540_9543delinsTTT	NP_733842.2:p.Leu3180PhefsTer3