Linked Data
ClinVar Variation Id:
7313
ClinVar RCV Id:
RCV000007737
dbSNP Id:
rs863223291
PubMed:
PMID:15952209
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91724553_91724559del , CM000671.2:g.91724553_91724559del | GRCh38 |
| NC_000009.11:g.94486835_94486841del , CM000671.1:g.94486835_94486841del | GRCh37 |
| NC_000009.10:g.93526656_93526662del | NCBI36 |
| NG_008089.1:g.230606_230612del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375708.4:c.1937_1943del MANE Select | ENSP00000364860.3:p.Tyr646CysfsTer? | |
| ENST00000375708.3:c.1937_1943del | ENSP00000364860.3:p.Tyr646CysfsTer? | |
| ENST00000375715.5:c.1517_1523del | ENSP00000364867.1:p.Tyr506CysfsTer? | |
| ENST00000550066.5:n.2405_2411del | ||
| NM_004560.3:c.1937_1943del | NP_004551.2:p.Tyr646CysfsTer? | |
| XM_005252008.3:c.1517_1523del | XP_005252065.1:p.Tyr506CysfsTer? | |
| XM_005252009.3:c.734_740del | XP_005252066.1:p.Tyr245CysfsTer? | |
| XM_006717121.2:c.1517_1523del | XP_006717184.1:p.Tyr506CysfsTer? | |
| XM_011518721.1:c.1517_1523del | XP_011517023.1:p.Tyr506CysfsTer? | |
| XM_005252008.4:c.1517_1523del | XP_005252065.1:p.Tyr506CysfsTer? | |
| XM_006717121.3:c.1517_1523del | XP_006717184.1:p.Tyr506CysfsTer? | |
| XM_017014762.1:c.1928_1934del | XP_016870251.1:p.Tyr643CysfsTer? | |
| XM_017014763.1:c.1517_1523del | XP_016870252.1:p.Tyr506CysfsTer? | |
| NM_004560.4:c.1937_1943del MANE Select | NP_004551.2:p.Tyr646CysfsTer? |