Canonical Allele Identifier: CA2695198857

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2677885
• ClinVar RCV Id: RCV003471700

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748035_51748036del , CM000668.2:g.51748035_51748036del	GRCh38
NC_000006.11:g.51612833_51612834del , CM000668.1:g.51612833_51612834del	GRCh37
NC_000006.10:g.51720792_51720793del	NCBI36
NG_008753.1:g.344594_344595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9584_9585del MANE Select	ENSP00000360158.3:p.Lys3195SerfsTer6
ENST00000340994.4:c.9584_9585del	ENSP00000341097.4:p.Lys3195SerfsTer6
ENST00000371117.7:c.9584_9585del	ENSP00000360158.3:p.Lys3195SerfsTer6
NM_138694.3:c.9584_9585del	NP_619639.3:p.Lys3195SerfsTer6
NM_170724.2:c.9584_9585del	NP_733842.2:p.Lys3195SerfsTer6
XM_011514679.1:c.9584_9585del	XP_011512981.1:p.Lys3195SerfsTer6
XM_011514680.1:c.9584_9585del	XP_011512982.1:p.Lys3195SerfsTer6
XM_011514681.1:c.9455_9456del	XP_011512983.1:p.Lys3152SerfsTer6
XM_011514682.1:c.9446_9447del	XP_011512984.1:p.Lys3149SerfsTer6
XM_011514683.1:c.8942_8943del	XP_011512985.1:p.Lys2981SerfsTer6
XM_011514684.1:c.8873_8874del	XP_011512986.1:p.Lys2958SerfsTer6
XM_011514685.1:c.9584_9585del	XP_011512987.1:p.Lys3195SerfsTer6
XM_011514686.1:c.9584_9585del	XP_011512988.1:p.Lys3195SerfsTer6
XM_011514687.1:c.9584_9585del	XP_011512989.1:p.Lys3195SerfsTer6
XM_011514688.1:c.9584_9585del	XP_011512990.1:p.Lys3195SerfsTer6
XM_011514690.1:c.3659_3660del	XP_011512992.1:p.Lys1220SerfsTer6
XM_011514691.1:c.3659_3660del	XP_011512993.1:p.Lys1220SerfsTer6
XM_011514680.3:c.9584_9585del	XP_011512982.1:p.Lys3195SerfsTer6
XM_011514682.3:c.9446_9447del	XP_011512984.1:p.Lys3149SerfsTer6
XM_011514683.3:c.8942_8943del	XP_011512985.1:p.Lys2981SerfsTer6
XM_011514684.3:c.8873_8874del	XP_011512986.1:p.Lys2958SerfsTer6
XM_011514686.2:c.9584_9585del	XP_011512988.1:p.Lys3195SerfsTer6
XM_011514688.2:c.9584_9585del	XP_011512990.1:p.Lys3195SerfsTer6
XM_011514690.3:c.3659_3660del	XP_011512992.1:p.Lys1220SerfsTer6
XM_011514691.3:c.3659_3660del	XP_011512993.1:p.Lys1220SerfsTer6
XM_017010944.2:c.9584_9585del	XP_016866433.1:p.Lys3195SerfsTer6
XM_017010945.2:c.9509_9510del	XP_016866434.1:p.Lys3170SerfsTer6
XM_017010946.2:c.9389_9390del	XP_016866435.1:p.Lys3130SerfsTer6
XM_017010947.2:c.9320_9321del	XP_016866436.1:p.Lys3107SerfsTer6
XM_017010948.2:c.8873_8874del	XP_016866437.1:p.Lys2958SerfsTer6
XM_017010949.2:c.7724_7725del	XP_016866438.1:p.Lys2575SerfsTer6
XM_017010950.1:c.9584_9585del	XP_016866439.1:p.Lys3195SerfsTer6
XR_001743469.1:n.9860_9861del
NM_138694.4:c.9584_9585del MANE Select	NP_619639.3:p.Lys3195SerfsTer6
NM_170724.3:c.9584_9585del	NP_733842.2:p.Lys3195SerfsTer6