Canonical Allele Identifier: CA1628502340

Gene: PKHD1

Linked Data

• dbSNP Id: rs1554218479

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748036dup , CM000668.2:g.51748036dup	GRCh38
NC_000006.11:g.51612834dup , CM000668.1:g.51612834dup	GRCh37
NC_000006.10:g.51720793dup	NCBI36
NG_008753.1:g.344595dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9585dup MANE Select	ENSP00000360158.3:p.Val3196SerfsTer6
ENST00000340994.4:c.9585dup	ENSP00000341097.4:p.Val3196SerfsTer6
ENST00000371117.7:c.9585dup	ENSP00000360158.3:p.Val3196SerfsTer6
NM_138694.3:c.9585dup	NP_619639.3:p.Val3196SerfsTer6
NM_170724.2:c.9585dup	NP_733842.2:p.Val3196SerfsTer6
XM_011514679.1:c.9585dup	XP_011512981.1:p.Val3196SerfsTer6
XM_011514680.1:c.9585dup	XP_011512982.1:p.Val3196SerfsTer6
XM_011514681.1:c.9456dup	XP_011512983.1:p.Val3153SerfsTer6
XM_011514682.1:c.9447dup	XP_011512984.1:p.Val3150SerfsTer6
XM_011514683.1:c.8943dup	XP_011512985.1:p.Val2982SerfsTer6
XM_011514684.1:c.8874dup	XP_011512986.1:p.Val2959SerfsTer6
XM_011514685.1:c.9585dup	XP_011512987.1:p.Val3196SerfsTer6
XM_011514686.1:c.9585dup	XP_011512988.1:p.Val3196SerfsTer6
XM_011514687.1:c.9585dup	XP_011512989.1:p.Val3196SerfsTer6
XM_011514688.1:c.9585dup	XP_011512990.1:p.Val3196SerfsTer6
XM_011514690.1:c.3660dup	XP_011512992.1:p.Val1221SerfsTer6
XM_011514691.1:c.3660dup	XP_011512993.1:p.Val1221SerfsTer6
XM_011514680.3:c.9585dup	XP_011512982.1:p.Val3196SerfsTer6
XM_011514682.3:c.9447dup	XP_011512984.1:p.Val3150SerfsTer6
XM_011514683.3:c.8943dup	XP_011512985.1:p.Val2982SerfsTer6
XM_011514684.3:c.8874dup	XP_011512986.1:p.Val2959SerfsTer6
XM_011514686.2:c.9585dup	XP_011512988.1:p.Val3196SerfsTer6
XM_011514688.2:c.9585dup	XP_011512990.1:p.Val3196SerfsTer6
XM_011514690.3:c.3660dup	XP_011512992.1:p.Val1221SerfsTer6
XM_011514691.3:c.3660dup	XP_011512993.1:p.Val1221SerfsTer6
XM_017010944.2:c.9585dup	XP_016866433.1:p.Val3196SerfsTer6
XM_017010945.2:c.9510dup	XP_016866434.1:p.Val3171SerfsTer6
XM_017010946.2:c.9390dup	XP_016866435.1:p.Val3131SerfsTer6
XM_017010947.2:c.9321dup	XP_016866436.1:p.Val3108SerfsTer6
XM_017010948.2:c.8874dup	XP_016866437.1:p.Val2959SerfsTer6
XM_017010949.2:c.7725dup	XP_016866438.1:p.Val2576SerfsTer6
XM_017010950.1:c.9585dup	XP_016866439.1:p.Val3196SerfsTer6
XR_001743469.1:n.9861dup
NM_138694.4:c.9585dup MANE Select	NP_619639.3:p.Val3196SerfsTer6
NM_170724.3:c.9585dup	NP_733842.2:p.Val3196SerfsTer6