Canonical Allele Identifier: CA16042630
Gene: PUF60 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372836
ClinVar RCV Id: RCV000413995
dbSNP Id: rs1057518014

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143817105_143817109del , CM000670.2:g.143817105_143817109del GRCh38
NC_000008.9:g.144971263_144971267del NCBI36
NG_030583.1:g.3273_3277del
NG_033879.1:g.17280_17284del

Transcript Alleles

HGVS Amino-acid change
NM_001136033.2:c.1054_1058del VV NP_001129505.1:p.Pro352GlyfsTer?
NM_001271096.1:c.1129_1133del VV NP_001258025.1:p.Pro377GlyfsTer?
NM_001271097.1:c.1045_1049del VV NP_001258026.1:p.Pro349GlyfsTer?
NM_001271098.1:c.1180_1184del VV NP_001258027.1:p.Pro394GlyfsTer?
NM_001271099.1:c.1096_1100del VV NP_001258028.1:p.Pro366GlyfsTer?
NM_001271100.1:c.1003_1007del VV NP_001258029.1:p.Pro335GlyfsTer?
NM_014281.4:c.1132_1136del VV NP_055096.2:p.Pro378GlyfsTer?
NM_078480.2:c.1183_1187del VV NP_510965.1:p.Pro395GlyfsTer?
XM_011516929.1:c.1294_1298del XP_011515231.1:p.Pro432GlyfsTer?
XM_011516930.1:c.1243_1247del XP_011515232.1:p.Pro415GlyfsTer?
NM_001362895.1:c.1294_1298del VV NP_001349824.1:p.Pro432GlyfsTer?
NM_001362896.1:c.1294_1298del VV NP_001349825.1:p.Pro432GlyfsTer?
NM_001362897.1:c.1243_1247del VV NP_001349826.1:p.Pro415GlyfsTer?
XM_017013234.1:c.1294_1298del XP_016868723.1:p.Pro432GlyfsTer?
XM_017013235.1:c.1258_1262del XP_016868724.1:p.Pro420GlyfsTer?
XM_017013236.1:c.1243_1247del XP_016868725.1:p.Pro415GlyfsTer?
XM_017013239.1:c.1054_1058del XP_016868728.1:p.Pro352GlyfsTer?
XM_017013240.1:c.1003_1007del XP_016868729.1:p.Pro335GlyfsTer?
ENST00000313352.11:c.1003_1007del ENSP00000322016.7:p.Pro335GlyfsTer?
ENST00000349157.10:c.1132_1136del ENSP00000322036.7:p.Pro378GlyfsTer?
ENST00000453551.6:c.1054_1058del ENSP00000402953.2:p.Pro352GlyfsTer?
ENST00000456095.6:n.1096_1100del ENSP00000395417.2:p.Pro366GlyfsTer?
ENST00000524570.5:n.1869_1873del
ENST00000526683.5:c.1183_1187del ENSP00000434359.1:p.Pro395GlyfsTer?
ENST00000527197.5:c.1045_1049del ENSP00000431960.1:p.Pro349GlyfsTer?
ENST00000532884.1:n.792_796del