Canonical Allele Identifier: CA2695206416

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659623_51659645del , CM000668.2:g.51659623_51659645del	GRCh38
NC_000006.11:g.51524421_51524443del , CM000668.1:g.51524421_51524443del	GRCh37
NC_000006.10:g.51632380_51632402del	NCBI36
NG_008753.1:g.432981_433003del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.10481_10503del MANE Select	ENSP00000360158.3:p.Leu3494ArgfsTer28
ENST00000371117.7:c.10481_10503del	ENSP00000360158.3:p.Leu3494ArgfsTer28
NM_138694.3:c.10481_10503del	NP_619639.3:p.Leu3494ArgfsTer28
XM_011514679.1:c.10481_10503del	XP_011512981.1:p.Leu3494ArgfsTer28
XM_011514680.1:c.10481_10503del	XP_011512982.1:p.Leu3494ArgfsTer28
XM_011514681.1:c.10352_10374del	XP_011512983.1:p.Leu3451ArgfsTer28
XM_011514682.1:c.10343_10365del	XP_011512984.1:p.Leu3448ArgfsTer28
XM_011514683.1:c.9839_9861del	XP_011512985.1:p.Leu3280ArgfsTer28
XM_011514684.1:c.9770_9792del	XP_011512986.1:p.Leu3257ArgfsTer28
XM_011514687.1:c.10157-10425_10157-10403del	XP_011512989.1:n.10157-10425_10157-10403d...
XM_011514690.1:c.4556_4578del	XP_011512992.1:p.Leu1519ArgfsTer28
XM_011514691.1:c.4556_4578del	XP_011512993.1:p.Leu1519ArgfsTer28
XR_926870.1:n.535+7250_535+7272del
XR_926871.1:n.403+7250_403+7272del
XR_926872.1:n.535+7250_535+7272del
XM_011514680.3:c.10481_10503del	XP_011512982.1:p.Leu3494ArgfsTer28
XM_011514682.3:c.10343_10365del	XP_011512984.1:p.Leu3448ArgfsTer28
XM_011514683.3:c.9839_9861del	XP_011512985.1:p.Leu3280ArgfsTer28
XM_011514684.3:c.9770_9792del	XP_011512986.1:p.Leu3257ArgfsTer28
XM_011514690.3:c.4556_4578del	XP_011512992.1:p.Leu1519ArgfsTer28
XM_011514691.3:c.4556_4578del	XP_011512993.1:p.Leu1519ArgfsTer28
XM_017010944.2:c.10481_10503del	XP_016866433.1:p.Leu3494ArgfsTer28
XM_017010945.2:c.10406_10428del	XP_016866434.1:p.Leu3469ArgfsTer28
XM_017010946.2:c.10286_10308del	XP_016866435.1:p.Leu3429ArgfsTer28
XM_017010947.2:c.10217_10239del	XP_016866436.1:p.Leu3406ArgfsTer28
XM_017010948.2:c.9770_9792del	XP_016866437.1:p.Leu3257ArgfsTer28
XM_017010949.2:c.8621_8643del	XP_016866438.1:p.Leu2874ArgfsTer28
XR_001743469.1:n.10757_10779del
XR_001744157.1:n.3145+7250_3145+7272del
XR_926870.2:n.3145+7250_3145+7272del
XR_926871.2:n.3013+7250_3013+7272del
XR_926872.2:n.3145+7250_3145+7272del
NM_138694.4:c.10481_10503del MANE Select	NP_619639.3:p.Leu3494ArgfsTer28