Linked Data
ClinVar Variation Id:
224547
ClinVar RCV Id:
RCV000210138
dbSNP Id:
rs869312780
PubMed:
PMID:26845104
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957985_87957986del , CM000672.2:g.87957985_87957986del | GRCh38 |
| NC_000010.10:g.89717742_89717743del , CM000672.1:g.89717742_89717743del | GRCh37 |
| NC_000010.9:g.89707722_89707723del | NCBI36 |
| NG_007466.2:g.99547_99548del , LRG_311:g.99547_99548del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.767_768del | ENSP00000514759.2:p.Glu256ValfsTer? | |
| ENST00000710265.1:c.767_768del | ENSP00000518161.1:p.Glu256ValfsTer? | |
| ENST00000472832.3:c.767_768del | ENSP00000483066.2:p.Glu256ValfsTer? | |
| ENST00000688158.2:n.1502_1503del | ||
| ENST00000688922.2:c.*597_*598del | ENSP00000508742.2:n.*597_*598del | |
| ENST00000700021.1:c.722_723del | ENSP00000514757.1:p.Glu241ValfsTer? | |
| ENST00000700022.1:c.*106_*107del | ENSP00000514758.1:n.*106_*107del | |
| ENST00000700023.1:n.1925_1926del | ||
| ENST00000700024.1:n.2159_2160del | ||
| ENST00000700025.1:n.1536_1537del | ||
| ENST00000700026.1:n.404_405del | ||
| ENST00000700029.1:c.601_602del | ||
| ENST00000706954.1:c.767_768del | ENSP00000516674.1:p.Glu256ValfsTer? | |
| ENST00000706955.1:c.*802_*803del | ENSP00000516675.1:n.*802_*803del | |
| ENST00000686459.1:c.*353_*354del | ENSP00000508909.1:n.*353_*354del | |
| ENST00000688158.1:c.*878_*879del | ENSP00000509254.1:n.*878_*879del | |
| ENST00000688308.1:c.767_768del | ENSP00000508752.1:p.Glu256ValfsTer? | |
| ENST00000688922.1:c.688_689del | ||
| ENST00000693560.1:c.1286_1287del | ENSP00000509861.1:p.Glu429ValfsTer? | |
| ENST00000371953.8:c.767_768del MANE Select | ENSP00000361021.3:p.Glu256ValfsTer? | |
| ENST00000371953.7:c.767_768del | ENSP00000361021.3:p.Glu256ValfsTer? | |
| ENST00000472832.2:c.194_195del | ENSP00000483066.1:p.Glu65ValfsTer? | |
| NM_000314.5:c.767_768del | NP_000305.3:p.Glu256ValfsTer? | |
| NM_000314.6:c.767_768del | NP_000305.3:p.Glu256ValfsTer? | |
| NM_001304717.2:c.1286_1287del | NP_001291646.2:p.Glu429ValfsTer? | |
| NM_001304718.1:c.176_177del | NP_001291647.1:p.Glu59ValfsTer? | |
| XM_006717926.2:c.722_723del | XP_006717989.1:p.Glu241ValfsTer? | |
| XM_011539981.1:c.767_768del | XP_011538283.1:p.Glu256ValfsTer? | |
| XM_011539982.1:c.671_672del | XP_011538284.1:p.Glu224ValfsTer? | |
| XR_945791.1:n.1337_1338del | ||
| NM_000314.7:c.767_768del | NP_000305.3:p.Glu256ValfsTer? | |
| NM_001304717.5:c.1286_1287del | NP_001291646.4:p.Glu429ValfsTer? | |
| NM_001304718.2:c.176_177del | NP_001291647.1:p.Glu59ValfsTer? | |
| NM_000314.8:c.767_768del MANE Select | NP_000305.3:p.Glu256ValfsTer? |