Canonical Allele Identifier: CA2695206426

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748041dup , CM000668.2:g.51748041dup	GRCh38
NC_000006.11:g.51612839dup , CM000668.1:g.51612839dup	GRCh37
NC_000006.10:g.51720798dup	NCBI36
NG_008753.1:g.344586dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9576dup MANE Select	ENSP00000360158.3:p.Val3193ArgfsTer9
ENST00000340994.4:c.9576dup	ENSP00000341097.4:p.Val3193ArgfsTer9
ENST00000371117.7:c.9576dup	ENSP00000360158.3:p.Val3193ArgfsTer9
NM_138694.3:c.9576dup	NP_619639.3:p.Val3193ArgfsTer9
NM_170724.2:c.9576dup	NP_733842.2:p.Val3193ArgfsTer9
XM_011514679.1:c.9576dup	XP_011512981.1:p.Val3193ArgfsTer9
XM_011514680.1:c.9576dup	XP_011512982.1:p.Val3193ArgfsTer9
XM_011514681.1:c.9447dup	XP_011512983.1:p.Val3150ArgfsTer9
XM_011514682.1:c.9438dup	XP_011512984.1:p.Val3147ArgfsTer9
XM_011514683.1:c.8934dup	XP_011512985.1:p.Val2979ArgfsTer9
XM_011514684.1:c.8865dup	XP_011512986.1:p.Val2956ArgfsTer9
XM_011514685.1:c.9576dup	XP_011512987.1:p.Val3193ArgfsTer9
XM_011514686.1:c.9576dup	XP_011512988.1:p.Val3193ArgfsTer9
XM_011514687.1:c.9576dup	XP_011512989.1:p.Val3193ArgfsTer9
XM_011514688.1:c.9576dup	XP_011512990.1:p.Val3193ArgfsTer9
XM_011514690.1:c.3651dup	XP_011512992.1:p.Val1218ArgfsTer9
XM_011514691.1:c.3651dup	XP_011512993.1:p.Val1218ArgfsTer9
XM_011514680.3:c.9576dup	XP_011512982.1:p.Val3193ArgfsTer9
XM_011514682.3:c.9438dup	XP_011512984.1:p.Val3147ArgfsTer9
XM_011514683.3:c.8934dup	XP_011512985.1:p.Val2979ArgfsTer9
XM_011514684.3:c.8865dup	XP_011512986.1:p.Val2956ArgfsTer9
XM_011514686.2:c.9576dup	XP_011512988.1:p.Val3193ArgfsTer9
XM_011514688.2:c.9576dup	XP_011512990.1:p.Val3193ArgfsTer9
XM_011514690.3:c.3651dup	XP_011512992.1:p.Val1218ArgfsTer9
XM_011514691.3:c.3651dup	XP_011512993.1:p.Val1218ArgfsTer9
XM_017010944.2:c.9576dup	XP_016866433.1:p.Val3193ArgfsTer9
XM_017010945.2:c.9501dup	XP_016866434.1:p.Val3168ArgfsTer9
XM_017010946.2:c.9381dup	XP_016866435.1:p.Val3128ArgfsTer9
XM_017010947.2:c.9312dup	XP_016866436.1:p.Val3105ArgfsTer9
XM_017010948.2:c.8865dup	XP_016866437.1:p.Val2956ArgfsTer9
XM_017010949.2:c.7716dup	XP_016866438.1:p.Val2573ArgfsTer9
XM_017010950.1:c.9576dup	XP_016866439.1:p.Val3193ArgfsTer9
XR_001743469.1:n.9852dup
NM_138694.4:c.9576dup MANE Select	NP_619639.3:p.Val3193ArgfsTer9
NM_170724.3:c.9576dup	NP_733842.2:p.Val3193ArgfsTer9