Linked Data
ClinVar Variation Id:
219109
ClinVar RCV Id:
RCV002508766
dbSNP Id:
rs864321682
PubMed:
PMID:26642243
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137876032del , CM000668.2:g.137876032del | GRCh38 |
| NC_000006.11:g.138197169del , CM000668.1:g.138197169del | GRCh37 |
| NC_000006.10:g.138238862del | NCBI36 |
| NG_032761.1:g.13589del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000420009.6:c.671del | ENSP00000401562.2:p.Phe224SerfsTer4 | |
| ENST00000711061.1:c.*394del | ENSP00000518561.1:n.*394del | |
| ENST00000421450.2:c.671del | ENSP00000393577.2:p.Phe224SerfsTer4 | |
| ENST00000433680.2:c.671del | ENSP00000409845.2:p.Phe224SerfsTer4 | |
| ENST00000485192.2:n.1292del | ||
| ENST00000698329.1:n.1020del | ||
| ENST00000698330.1:n.296-2400del | ||
| ENST00000612899.5:c.671del MANE Select | ENSP00000481570.1:p.Phe224SerfsTer4 | |
| ENST00000237289.8:c.671del | ENSP00000237289.4:p.Phe224SerfsTer4 | |
| ENST00000485192.1:n.195del | ||
| ENST00000612899.4:c.671del | ENSP00000481570.1:p.Phe224SerfsTer4 | |
| ENST00000614035.4:c.671del | ENSP00000481122.2:p.Phe224SerfsTer4 | |
| ENST00000615468.4:c.*25del | ENSP00000479556.1:n.*25del | |
| ENST00000619035.4:c.671del | ENSP00000478438.1:p.Phe224SerfsTer4 | |
| ENST00000620204.3:c.671del | ENSP00000481454.1:p.Phe224SerfsTer4 | |
| ENST00000621150.3:c.671del | ENSP00000484332.2:p.Phe224SerfsTer4 | |
| NM_001270507.1:c.671del | NP_001257436.1:p.Phe224SerfsTer4 | |
| NM_001270508.1:c.671del | NP_001257437.1:p.Phe224SerfsTer4 | |
| NM_006290.3:c.671del | NP_006281.1:p.Phe224SerfsTer4 | |
| XM_005267119.1:c.671del | XP_005267176.1:p.Phe224SerfsTer4 | |
| XM_006715555.1:c.32del | XP_006715618.1:p.Phe11SerfsTer4 | |
| XM_011536095.1:c.671del | XP_011534397.1:p.Phe224SerfsTer4 | |
| XM_011536096.1:c.671del | XP_011534398.1:p.Phe224SerfsTer4 | |
| XM_011536096.2:c.671del | XP_011534398.1:p.Phe224SerfsTer4 | |
| XM_024446532.1:c.671del | XP_024302300.1:p.Phe224SerfsTer4 | |
| XM_024446533.1:c.671del | XP_024302301.1:p.Phe224SerfsTer4 | |
| NM_001270508.2:c.671del MANE Select | NP_001257437.1:p.Phe224SerfsTer4 | |
| NM_001270507.2:c.671del | NP_001257436.1:p.Phe224SerfsTer4 | |
| NM_006290.4:c.671del | NP_006281.1:p.Phe224SerfsTer4 |