Canonical Allele Identifier: CA2679076411
Gene: PKHD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51626927_51626930del , CM000668.2:g.51626927_51626930del GRCh38
NC_000006.11:g.51491725_51491728del , CM000668.1:g.51491725_51491728del GRCh37
NC_000006.10:g.51599684_51599687del NCBI36
NG_008753.1:g.465698_465701del

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.11785+69_11785+72del MANE Select ENSP00000360158.3:n.11785+69_11785+72del
ENST00000371117.7:c.11785+69_11785+72del ENSP00000360158.3:n.11785+69_11785+72del
NM_138694.3:c.11785+69_11785+72del NP_619639.3:n.11785+69_11785+72del
XM_011514679.1:c.11785+69_11785+72del XP_011512981.1:n.11785+69_11785+72del
XM_011514680.1:c.11785+69_11785+72del XP_011512982.1:n.11785+69_11785+72del
XM_011514681.1:c.11656+69_11656+72del XP_011512983.1:n.11656+69_11656+72del
XM_011514682.1:c.11647+69_11647+72del XP_011512984.1:n.11647+69_11647+72del
XM_011514683.1:c.11143+69_11143+72del XP_011512985.1:n.11143+69_11143+72del
XM_011514684.1:c.11074+69_11074+72del XP_011512986.1:n.11074+69_11074+72del
XM_011514690.1:c.5860+69_5860+72del XP_011512992.1:n.5860+69_5860+72del
XM_011514691.1:c.5860+69_5860+72del XP_011512993.1:n.5860+69_5860+72del
XM_011514680.3:c.11785+69_11785+72del XP_011512982.1:n.11785+69_11785+72del
XM_011514682.3:c.11647+69_11647+72del XP_011512984.1:n.11647+69_11647+72del
XM_011514683.3:c.11143+69_11143+72del XP_011512985.1:n.11143+69_11143+72del
XM_011514684.3:c.11074+69_11074+72del XP_011512986.1:n.11074+69_11074+72del
XM_011514690.3:c.5860+69_5860+72del XP_011512992.1:n.5860+69_5860+72del
XM_011514691.3:c.5860+69_5860+72del XP_011512993.1:n.5860+69_5860+72del
XM_017010944.2:c.11785+69_11785+72del XP_016866433.1:n.11785+69_11785+72del
XM_017010945.2:c.11710+69_11710+72del XP_016866434.1:n.11710+69_11710+72del
XM_017010946.2:c.11590+69_11590+72del XP_016866435.1:n.11590+69_11590+72del
XM_017010947.2:c.11521+69_11521+72del XP_016866436.1:n.11521+69_11521+72del
XM_017010948.2:c.11074+69_11074+72del XP_016866437.1:n.11074+69_11074+72del
XM_017010949.2:c.9925+69_9925+72del XP_016866438.1:n.9925+69_9925+72del
NM_138694.4:c.11785+69_11785+72del MANE Select NP_619639.3:n.11785+69_11785+72del