Canonical Allele Identifier: CA224061
Gene: PKHD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52043128_52043129del , CM000668.2:g.52043128_52043129del GRCh38
NC_000006.11:g.51907926_51907927del , CM000668.1:g.51907926_51907927del GRCh37
NC_000006.10:g.52015885_52015886del NCBI36
NG_008753.1:g.49497_49498del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.2827_2828del MANE Select ENSP00000360158.3:p.Asp943HisfsTer15
ENST00000340994.4:c.2827_2828del ENSP00000341097.4:p.Asp943HisfsTer15
ENST00000371117.7:c.2827_2828del ENSP00000360158.3:p.Asp943HisfsTer15
NM_138694.3:c.2827_2828del NP_619639.3:p.Asp943HisfsTer15
NM_170724.2:c.2827_2828del NP_733842.2:p.Asp943HisfsTer15
XM_011514679.1:c.2827_2828del XP_011512981.1:p.Asp943HisfsTer15
XM_011514680.1:c.2827_2828del XP_011512982.1:p.Asp943HisfsTer15
XM_011514681.1:c.2827_2828del XP_011512983.1:p.Asp943HisfsTer15
XM_011514682.1:c.2827_2828del XP_011512984.1:p.Asp943HisfsTer15
XM_011514683.1:c.2827_2828del XP_011512985.1:p.Asp943HisfsTer15
XM_011514684.1:c.2116_2117del XP_011512986.1:p.Asp706HisfsTer15
XM_011514685.1:c.2827_2828del XP_011512987.1:p.Asp943HisfsTer15
XM_011514686.1:c.2827_2828del XP_011512988.1:p.Asp943HisfsTer15
XM_011514687.1:c.2827_2828del XP_011512989.1:p.Asp943HisfsTer15
XM_011514688.1:c.2827_2828del XP_011512990.1:p.Asp943HisfsTer15
XM_011514689.1:c.2827_2828del XP_011512991.1:p.Asp943HisfsTer15
XM_011514680.3:c.2827_2828del XP_011512982.1:p.Asp943HisfsTer15
XM_011514682.3:c.2827_2828del XP_011512984.1:p.Asp943HisfsTer15
XM_011514683.3:c.2827_2828del XP_011512985.1:p.Asp943HisfsTer15
XM_011514684.3:c.2116_2117del XP_011512986.1:p.Asp706HisfsTer15
XM_011514686.2:c.2827_2828del XP_011512988.1:p.Asp943HisfsTer15
XM_011514688.2:c.2827_2828del XP_011512990.1:p.Asp943HisfsTer15
XM_017010944.2:c.2827_2828del XP_016866433.1:p.Asp943HisfsTer15
XM_017010945.2:c.2752_2753del XP_016866434.1:p.Asp918HisfsTer15
XM_017010946.2:c.2827_2828del XP_016866435.1:p.Asp943HisfsTer15
XM_017010947.2:c.2827_2828del XP_016866436.1:p.Asp943HisfsTer15
XM_017010948.2:c.2116_2117del XP_016866437.1:p.Asp706HisfsTer15
XM_017010949.2:c.967_968del XP_016866438.1:p.Asp323HisfsTer15
XM_017010950.1:c.2827_2828del XP_016866439.1:p.Asp943HisfsTer15
XM_017010951.1:c.2827_2828del XP_016866440.1:p.Asp943HisfsTer15
XM_017010952.1:c.2827_2828del XP_016866441.1:p.Asp943HisfsTer15
XR_001743469.1:n.3103_3104del
NM_138694.4:c.2827_2828del MANE Select NP_619639.3:p.Asp943HisfsTer15
NM_170724.3:c.2827_2828del NP_733842.2:p.Asp943HisfsTer15
Search 100 bp 5'
Search 100 bp 3'