Canonical Allele Identifier: CA2679081926
Gene: PKHD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51912587_51912588insAAAACAGCATGGTA , CM000668.2:g.51912587_51912588insAAAACAGCATGGTA GRCh38
NC_000006.11:g.51777385_51777386insAAAACAGCATGGTA , CM000668.1:g.51777385_51777386insAAAACAGCATGGTA GRCh37
NC_000006.10:g.51885344_51885345insAAAACAGCATGGTA NCBI36
NG_008753.1:g.180038_180039insTACCATGCTGTTTT

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.6122-12_6122-11insTACCATGCTGTTTT MANE Select ENSP00000360158.3:n.6122-12_6122-11insTAC...
ENST00000340994.4:c.6122-12_6122-11insTACCATGCTGTTTT ENSP00000341097.4:n.6122-12_6122-11insTAC...
ENST00000371117.7:c.6122-12_6122-11insTACCATGCTGTTTT ENSP00000360158.3:n.6122-12_6122-11insTAC...
NM_138694.3:c.6122-12_6122-11insTACCATGCTGTTTT NP_619639.3:n.6122-12_6122-11insTACCATGCT...
NM_170724.2:c.6122-12_6122-11insTACCATGCTGTTTT NP_733842.2:n.6122-12_6122-11insTACCATGCT...
XM_011514679.1:c.6122-12_6122-11insTACCATGCTGTTTT XP_011512981.1:n.6122-12_6122-11insTACCAT...
XM_011514680.1:c.6122-12_6122-11insTACCATGCTGTTTT XP_011512982.1:n.6122-12_6122-11insTACCAT...
XM_011514681.1:c.6122-12_6122-11insTACCATGCTGTTTT XP_011512983.1:n.6122-12_6122-11insTACCAT...
XM_011514682.1:c.6122-12_6122-11insTACCATGCTGTTTT XP_011512984.1:n.6122-12_6122-11insTACCAT...
XM_011514683.1:c.5480-12_5480-11insTACCATGCTGTTTT XP_011512985.1:n.5480-12_5480-11insTACCAT...
XM_011514684.1:c.5411-12_5411-11insTACCATGCTGTTTT XP_011512986.1:n.5411-12_5411-11insTACCAT...
XM_011514685.1:c.6122-12_6122-11insTACCATGCTGTTTT XP_011512987.1:n.6122-12_6122-11insTACCAT...
XM_011514686.1:c.6122-12_6122-11insTACCATGCTGTTTT XP_011512988.1:n.6122-12_6122-11insTACCAT...
XM_011514687.1:c.6122-12_6122-11insTACCATGCTGTTTT XP_011512989.1:n.6122-12_6122-11insTACCAT...
XM_011514688.1:c.6122-12_6122-11insTACCATGCTGTTTT XP_011512990.1:n.6122-12_6122-11insTACCAT...
XM_011514689.1:c.6122-12_6122-11insTACCATGCTGTTTT XP_011512991.1:n.6122-12_6122-11insTACCAT...
XM_011514690.1:c.197-12_197-11insTACCATGCTGTTTT XP_011512992.1:n.197-12_197-11insTACCATGC...
XM_011514691.1:c.197-12_197-11insTACCATGCTGTTTT XP_011512993.1:n.197-12_197-11insTACCATGC...
XM_011514680.3:c.6122-12_6122-11insTACCATGCTGTTTT XP_011512982.1:n.6122-12_6122-11insTACCAT...
XM_011514682.3:c.6122-12_6122-11insTACCATGCTGTTTT XP_011512984.1:n.6122-12_6122-11insTACCAT...
XM_011514683.3:c.5480-12_5480-11insTACCATGCTGTTTT XP_011512985.1:n.5480-12_5480-11insTACCAT...
XM_011514684.3:c.5411-12_5411-11insTACCATGCTGTTTT XP_011512986.1:n.5411-12_5411-11insTACCAT...
XM_011514686.2:c.6122-12_6122-11insTACCATGCTGTTTT XP_011512988.1:n.6122-12_6122-11insTACCAT...
XM_011514688.2:c.6122-12_6122-11insTACCATGCTGTTTT XP_011512990.1:n.6122-12_6122-11insTACCAT...
XM_011514690.3:c.197-12_197-11insTACCATGCTGTTTT XP_011512992.1:n.197-12_197-11insTACCATGC...
XM_011514691.3:c.197-12_197-11insTACCATGCTGTTTT XP_011512993.1:n.197-12_197-11insTACCATGC...
XM_017010944.2:c.6122-12_6122-11insTACCATGCTGTTTT XP_016866433.1:n.6122-12_6122-11insTACCAT...
XM_017010945.2:c.6047-12_6047-11insTACCATGCTGTTTT XP_016866434.1:n.6047-12_6047-11insTACCAT...
XM_017010946.2:c.6122-12_6122-11insTACCATGCTGTTTT XP_016866435.1:n.6122-12_6122-11insTACCAT...
XM_017010947.2:c.5858-12_5858-11insTACCATGCTGTTTT XP_016866436.1:n.5858-12_5858-11insTACCAT...
XM_017010948.2:c.5411-12_5411-11insTACCATGCTGTTTT XP_016866437.1:n.5411-12_5411-11insTACCAT...
XM_017010949.2:c.4262-12_4262-11insTACCATGCTGTTTT XP_016866438.1:n.4262-12_4262-11insTACCAT...
XM_017010950.1:c.6122-12_6122-11insTACCATGCTGTTTT XP_016866439.1:n.6122-12_6122-11insTACCAT...
XM_017010951.1:c.6122-12_6122-11insTACCATGCTGTTTT XP_016866440.1:n.6122-12_6122-11insTACCAT...
XM_017010952.1:c.6122-12_6122-11insTACCATGCTGTTTT XP_016866441.1:n.6122-12_6122-11insTACCAT...
XR_001743469.1:n.6398-12_6398-11insTACCATGCTGTTTT
NM_138694.4:c.6122-12_6122-11insTACCATGCTGTTTT MANE Select NP_619639.3:n.6122-12_6122-11insTACCATGCT...
NM_170724.3:c.6122-12_6122-11insTACCATGCTGTTTT NP_733842.2:n.6122-12_6122-11insTACCATGCT...