Canonical Allele Identifier: CA891842946
Gene: PIGO HGNC NCBI

Linked Data

ClinVar Variation Id: 577203
dbSNP Id: rs1563998317

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35092617_35092618del , CM000671.2:g.35092617_35092618del GRCh38
NC_000009.11:g.35092614_35092615del , CM000671.1:g.35092614_35092615del GRCh37
NC_000009.10:g.35082614_35082615del NCBI36
NG_031990.1:g.8986_8987del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361778.7:c.1271_1272del ENSP00000354678.2:p.Val424AspfsTer3
ENST00000700254.1:c.1271_1272del ENSP00000514892.1:p.Val424AspfsTer3
ENST00000700255.1:c.*451_*452del ENSP00000514893.1:n.*451_*452del
ENST00000700256.1:n.1303_1304del
ENST00000700257.1:c.1271_1272del ENSP00000514894.1:p.Val424AspfsTer3
ENST00000700259.1:c.1271_1272del ENSP00000514895.1:p.Val424AspfsTer3
ENST00000700260.1:c.1091_1092del ENSP00000514896.1:p.Val364AspfsTer3
ENST00000700261.1:c.1271_1272del ENSP00000514897.1:p.Val424AspfsTer3
ENST00000700262.1:c.1271_1272del ENSP00000514898.1:p.Val424AspfsTer3
ENST00000700263.1:c.1147_1148del ENSP00000514899.1:n.1147_1148del
ENST00000700264.1:c.1271_1272del ENSP00000514900.1:p.Val424AspfsTer3
ENST00000378617.4:c.1271_1272del MANE Select ENSP00000367880.3:p.Val424AspfsTer3
ENST00000298004.9:c.1271_1272del ENSP00000298004.5:p.Val424AspfsTer3
ENST00000361778.6:c.1271_1272del ENSP00000354678.2:p.Val424AspfsTer3
ENST00000378617.3:c.1271_1272del ENSP00000367880.3:p.Val424AspfsTer3
ENST00000465745.6:n.2272_2273del
ENST00000474436.1:n.2729_2730del
NM_001201484.1:c.1271_1272del NP_001188413.1:p.Val424AspfsTer3
NM_032634.3:c.1271_1272del NP_116023.2:p.Val424AspfsTer3
NM_152850.3:c.1271_1272del NP_690577.2:p.Val424AspfsTer3
XM_005251619.2:c.1271_1272del XP_005251676.1:p.Val424AspfsTer3
XM_011518056.1:c.1271_1272del XP_011516358.1:p.Val424AspfsTer3
XR_242515.1:n.1292_1293del
XM_005251619.3:c.1271_1272del XP_005251676.1:p.Val424AspfsTer3
XM_017015222.2:c.1271_1272del XP_016870711.1:p.Val424AspfsTer3
XM_017015223.1:c.1271_1272del XP_016870712.1:p.Val424AspfsTer3
XM_017015224.1:c.1271_1272del XP_016870713.1:p.Val424AspfsTer3
XR_001746390.1:n.1694_1695del
XR_001746391.2:n.1292_1293del
XR_242515.3:n.1292_1293del
NM_032634.4:c.1271_1272del MANE Select NP_116023.2:p.Val424AspfsTer3
NM_001201484.2:c.1271_1272del NP_001188413.1:p.Val424AspfsTer3
NM_152850.4:c.1271_1272del NP_690577.2:p.Val424AspfsTer3