Canonical Allele Identifier: CA1471293190
Gene: PRDM8 HGNC NCBI

Linked Data

dbSNP Id: rs1738578310

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80202469_80202470del , CM000666.2:g.80202469_80202470del GRCh38
NC_000004.11:g.81123623_81123624del , CM000666.1:g.81123623_81123624del GRCh37
NC_000004.10:g.81342647_81342648del NCBI36
NG_046725.1:g.22200_22201del

Transcript Alleles

HGVS Amino-acid Change
ENST00000415738.3:c.1007_1008del MANE Select ENSP00000406998.2:p.Phe336CysfsTer?
ENST00000339711.8:c.1007_1008del ENSP00000339764.4:p.Phe336CysfsTer?
ENST00000415738.2:c.1007_1008del ENSP00000406998.2:p.Phe336CysfsTer?
ENST00000504452.5:c.1007_1008del ENSP00000423985.1:p.Phe336CysfsTer?
ENST00000515013.5:c.1007_1008del ENSP00000425149.1:p.Phe336CysfsTer?
NM_001099403.1:c.1007_1008del NP_001092873.1:p.Phe336CysfsTer?
NM_020226.3:c.1007_1008del NP_064611.3:p.Phe336CysfsTer?
XM_005263144.2:c.1010_1011del XP_005263201.1:p.Phe337CysfsTer?
XM_005263145.2:c.1010_1011del XP_005263202.1:p.Phe337CysfsTer?
XM_005263146.3:c.1007_1008del XP_005263203.1:p.Phe336CysfsTer?
XM_011532133.1:c.1850_1851del XP_011530435.1:p.Phe617CysfsTer?
XM_011532134.1:c.1847_1848del XP_011530436.1:p.Phe616CysfsTer?
XM_011532135.1:c.1709_1710del XP_011530437.1:p.Phe570CysfsTer?
XM_011532136.1:c.1562_1563del XP_011530438.1:p.Phe521CysfsTer?
XM_011532137.1:c.1562_1563del XP_011530439.1:p.Phe521CysfsTer?
XM_011532138.1:c.1562_1563del XP_011530440.1:p.Phe521CysfsTer?
XM_011532139.1:c.1562_1563del XP_011530441.1:p.Phe521CysfsTer?
XM_011532140.1:c.1562_1563del XP_011530442.1:p.Phe521CysfsTer?
XM_011532141.1:c.1424_1425del XP_011530443.1:p.Phe475CysfsTer?
XM_011532142.1:c.1403_1404del XP_011530444.1:p.Phe468CysfsTer?
XM_005263146.4:c.1007_1008del XP_005263203.1:p.Phe336CysfsTer?
XM_011532133.2:c.1850_1851del XP_011530435.1:p.Phe617CysfsTer?
XM_011532135.2:c.1709_1710del XP_011530437.1:p.Phe570CysfsTer?
XM_011532140.2:c.1562_1563del XP_011530442.1:p.Phe521CysfsTer?
XM_011532141.3:c.1424_1425del XP_011530443.1:p.Phe475CysfsTer?
XM_017008468.1:c.1559_1560del XP_016863957.1:p.Phe520CysfsTer?
XM_017008469.1:c.1646_1647del XP_016863958.1:p.Phe549CysfsTer?
XM_017008470.1:c.1562_1563del XP_016863959.1:p.Phe521CysfsTer?
NM_001099403.2:c.1007_1008del MANE Select NP_001092873.1:p.Phe336CysfsTer?
NM_020226.4:c.1007_1008del NP_064611.3:p.Phe336CysfsTer?