Canonical Allele Identifier: CA2695206427

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748092_51748093delinsC , CM000668.2:g.51748092_51748093delinsC	GRCh38
NC_000006.11:g.51612890_51612891delinsC , CM000668.1:g.51612890_51612891delinsC	GRCh37
NC_000006.10:g.51720849_51720850delinsC	NCBI36
NG_008753.1:g.344533_344534delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9523_9524delinsG MANE Select	ENSP00000360158.3:p.Asn3175ValfsTer8
ENST00000340994.4:c.9523_9524delinsG	ENSP00000341097.4:p.Asn3175ValfsTer8
ENST00000371117.7:c.9523_9524delinsG	ENSP00000360158.3:p.Asn3175ValfsTer8
NM_138694.3:c.9523_9524delinsG	NP_619639.3:p.Asn3175ValfsTer8
NM_170724.2:c.9523_9524delinsG	NP_733842.2:p.Asn3175ValfsTer8
XM_011514679.1:c.9523_9524delinsG	XP_011512981.1:p.Asn3175ValfsTer8
XM_011514680.1:c.9523_9524delinsG	XP_011512982.1:p.Asn3175ValfsTer8
XM_011514681.1:c.9394_9395delinsG	XP_011512983.1:p.Asn3132ValfsTer8
XM_011514682.1:c.9385_9386delinsG	XP_011512984.1:p.Asn3129ValfsTer8
XM_011514683.1:c.8881_8882delinsG	XP_011512985.1:p.Asn2961ValfsTer8
XM_011514684.1:c.8812_8813delinsG	XP_011512986.1:p.Asn2938ValfsTer8
XM_011514685.1:c.9523_9524delinsG	XP_011512987.1:p.Asn3175ValfsTer8
XM_011514686.1:c.9523_9524delinsG	XP_011512988.1:p.Asn3175ValfsTer8
XM_011514687.1:c.9523_9524delinsG	XP_011512989.1:p.Asn3175ValfsTer8
XM_011514688.1:c.9523_9524delinsG	XP_011512990.1:p.Asn3175ValfsTer8
XM_011514690.1:c.3598_3599delinsG	XP_011512992.1:p.Asn1200ValfsTer8
XM_011514691.1:c.3598_3599delinsG	XP_011512993.1:p.Asn1200ValfsTer8
XM_011514680.3:c.9523_9524delinsG	XP_011512982.1:p.Asn3175ValfsTer8
XM_011514682.3:c.9385_9386delinsG	XP_011512984.1:p.Asn3129ValfsTer8
XM_011514683.3:c.8881_8882delinsG	XP_011512985.1:p.Asn2961ValfsTer8
XM_011514684.3:c.8812_8813delinsG	XP_011512986.1:p.Asn2938ValfsTer8
XM_011514686.2:c.9523_9524delinsG	XP_011512988.1:p.Asn3175ValfsTer8
XM_011514688.2:c.9523_9524delinsG	XP_011512990.1:p.Asn3175ValfsTer8
XM_011514690.3:c.3598_3599delinsG	XP_011512992.1:p.Asn1200ValfsTer8
XM_011514691.3:c.3598_3599delinsG	XP_011512993.1:p.Asn1200ValfsTer8
XM_017010944.2:c.9523_9524delinsG	XP_016866433.1:p.Asn3175ValfsTer8
XM_017010945.2:c.9448_9449delinsG	XP_016866434.1:p.Asn3150ValfsTer8
XM_017010946.2:c.9328_9329delinsG	XP_016866435.1:p.Asn3110ValfsTer8
XM_017010947.2:c.9259_9260delinsG	XP_016866436.1:p.Asn3087ValfsTer8
XM_017010948.2:c.8812_8813delinsG	XP_016866437.1:p.Asn2938ValfsTer8
XM_017010949.2:c.7663_7664delinsG	XP_016866438.1:p.Asn2555ValfsTer8
XM_017010950.1:c.9523_9524delinsG	XP_016866439.1:p.Asn3175ValfsTer8
XR_001743469.1:n.9799_9800delinsG
NM_138694.4:c.9523_9524delinsG MANE Select	NP_619639.3:p.Asn3175ValfsTer8
NM_170724.3:c.9523_9524delinsG	NP_733842.2:p.Asn3175ValfsTer8