Canonical Allele Identifier: CA1628502958

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748277_51748278delinsAG , CM000668.2:g.51748277_51748278delinsAG	GRCh38
NC_000006.11:g.51613075_51613076delinsAG , CM000668.1:g.51613075_51613076delinsAG	GRCh37
NC_000006.10:g.51721034_51721035delinsAG	NCBI36
NG_008753.1:g.344348_344349delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9338_9339delinsCT MANE Select	ENSP00000360158.3:p.Ser3113=
ENST00000340994.4:c.9338_9339delinsCT	ENSP00000341097.4:p.Ser3113=
ENST00000371117.7:c.9338_9339delinsCT	ENSP00000360158.3:p.Ser3113=
NM_138694.3:c.9338_9339delinsCT	NP_619639.3:p.Ser3113=
NM_170724.2:c.9338_9339delinsCT	NP_733842.2:p.Ser3113=
XM_011514679.1:c.9338_9339delinsCT	XP_011512981.1:p.Ser3113=
XM_011514680.1:c.9338_9339delinsCT	XP_011512982.1:p.Ser3113=
XM_011514681.1:c.9209_9210delinsCT	XP_011512983.1:p.Ser3070=
XM_011514682.1:c.9200_9201delinsCT	XP_011512984.1:p.Ser3067=
XM_011514683.1:c.8696_8697delinsCT	XP_011512985.1:p.Ser2899=
XM_011514684.1:c.8627_8628delinsCT	XP_011512986.1:p.Ser2876=
XM_011514685.1:c.9338_9339delinsCT	XP_011512987.1:p.Ser3113=
XM_011514686.1:c.9338_9339delinsCT	XP_011512988.1:p.Ser3113=
XM_011514687.1:c.9338_9339delinsCT	XP_011512989.1:p.Ser3113=
XM_011514688.1:c.9338_9339delinsCT	XP_011512990.1:p.Ser3113=
XM_011514690.1:c.3413_3414delinsCT	XP_011512992.1:p.Ser1138=
XM_011514691.1:c.3413_3414delinsCT	XP_011512993.1:p.Ser1138=
XM_011514680.3:c.9338_9339delinsCT	XP_011512982.1:p.Ser3113=
XM_011514682.3:c.9200_9201delinsCT	XP_011512984.1:p.Ser3067=
XM_011514683.3:c.8696_8697delinsCT	XP_011512985.1:p.Ser2899=
XM_011514684.3:c.8627_8628delinsCT	XP_011512986.1:p.Ser2876=
XM_011514686.2:c.9338_9339delinsCT	XP_011512988.1:p.Ser3113=
XM_011514688.2:c.9338_9339delinsCT	XP_011512990.1:p.Ser3113=
XM_011514690.3:c.3413_3414delinsCT	XP_011512992.1:p.Ser1138=
XM_011514691.3:c.3413_3414delinsCT	XP_011512993.1:p.Ser1138=
XM_017010944.2:c.9338_9339delinsCT	XP_016866433.1:p.Ser3113=
XM_017010945.2:c.9263_9264delinsCT	XP_016866434.1:p.Ser3088=
XM_017010946.2:c.9143_9144delinsCT	XP_016866435.1:p.Ser3048=
XM_017010947.2:c.9074_9075delinsCT	XP_016866436.1:p.Ser3025=
XM_017010948.2:c.8627_8628delinsCT	XP_016866437.1:p.Ser2876=
XM_017010949.2:c.7478_7479delinsCT	XP_016866438.1:p.Ser2493=
XM_017010950.1:c.9338_9339delinsCT	XP_016866439.1:p.Ser3113=
XR_001743469.1:n.9614_9615delinsCT
NM_138694.4:c.9338_9339delinsCT MANE Select	NP_619639.3:p.Ser3113=
NM_170724.3:c.9338_9339delinsCT	NP_733842.2:p.Ser3113=