Canonical Allele Identifier: CA16041047
Gene: PKHD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371577
ClinVar RCV Id: RCV000411392
dbSNP Id: rs1057517378

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51912577_51912579delinsT , CM000668.2:g.51912577_51912579delinsT GRCh38
NC_000006.10:g.51885334_51885336delinsT NCBI36
NC_000006.11:g.51777375_51777377delinsT , CM000668.1:g.51777375_51777377delinsT GRCh37
NG_008753.1:g.180047_180049delinsA

Transcript Alleles

HGVS Amino-acid change
ENST00000340994.4:c.6122-3_6122-1delinsA ENSP00000341097.4:p.=
ENST00000371117.7:c.6122-3_6122-1delinsA ENSP00000360158.3:p.=
NM_138694.3:c.6122-3_6122-1delinsA NP_619639.3:p.=
NM_170724.2:c.6122-3_6122-1delinsA NP_733842.2:p.=
XM_011514679.1:c.6122-3_6122-1delinsA XP_011512981.1:p.=
XM_011514680.1:c.6122-3_6122-1delinsA XP_011512982.1:p.=
XM_011514681.1:c.6122-3_6122-1delinsA XP_011512983.1:p.=
XM_011514682.1:c.6122-3_6122-1delinsA XP_011512984.1:p.=
XM_011514683.1:c.5480-3_5480-1delinsA XP_011512985.1:p.=
XM_011514684.1:c.5411-3_5411-1delinsA XP_011512986.1:p.=
XM_011514685.1:c.6122-3_6122-1delinsA XP_011512987.1:p.=
XM_011514686.1:c.6122-3_6122-1delinsA XP_011512988.1:p.=
XM_011514687.1:c.6122-3_6122-1delinsA XP_011512989.1:p.=
XM_011514688.1:c.6122-3_6122-1delinsA XP_011512990.1:p.=
XM_011514689.1:c.6122-3_6122-1delinsA XP_011512991.1:p.=
XM_011514690.1:c.197-3_197-1delinsA XP_011512992.1:p.=
XM_011514691.1:c.197-3_197-1delinsA XP_011512993.1:p.=