Linked Data
ClinVar Variation Id:
552220
ClinVar RCV Id:
RCV000667445
dbSNP Id:
rs1554088199
MyVariant Identifiers:
chr5:g.132390907_132390928del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390907_132390928del , CM000667.2:g.132390907_132390928del | GRCh38 |
| NC_000005.9:g.131726599_131726620del , CM000667.1:g.131726599_131726620del | GRCh37 |
| NC_000005.8:g.131754498_131754519del | NCBI36 |
| NG_008982.1:g.26199_26220del | |
| NG_008982.2:g.26204_26225del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1108+3_1108+24del | ||
| ENST00000435065.7:c.1339+3_1339+24del | ||
| ENST00000448810.6:c.*119+3_*119+24del | ||
| ENST00000685543.1:n.1408+3_1408+24del | ||
| ENST00000686757.1:c.*431+3_*431+24del | ||
| ENST00000687740.1:n.3952+3_3952+24del | ||
| ENST00000688151.1:n.2577+3_2577+24del | ||
| ENST00000689271.1:c.1114+3_1114+24del | ||
| ENST00000690900.1:c.*431+3_*431+24del | ||
| ENST00000692212.1:n.2882_2903del | ||
| ENST00000692355.1:c.520+3_520+24del | ||
| ENST00000692413.1:c.1249+3_1249+24del | ||
| ENST00000692825.1:c.1335+3_1335+24del | ||
| ENST00000693308.1:c.1315+3_1315+24del | ||
| ENST00000693763.1:n.2427+3_2427+24del | ||
| ENST00000245407.8:c.1267+3_1267+24del | ||
| ENST00000245407.7:c.1267+3_1267+24del | ||
| ENST00000435065.6:c.1339+3_1339+24del | ||
| ENST00000447841.5:c.112-1526_112-1505del | ||
| ENST00000448810.5:c.529+3_529+24del | ||
| ENST00000461013.5:n.8689+3_8689+24del | ||
| ENST00000475308.1:n.1945+3_1945+24del | ||
| ENST00000479605.5:n.370+3_370+24del | ||
| NM_001308122.1:c.1339+3_1339+24del | ||
| NM_003060.3:c.1267+3_1267+24del | ||
| XM_011543590.1:c.649+3_649+24del | ||
| XR_427718.1:n.1627+3_1627+24del | ||
| XR_948290.1:n.1394-1526_1394-1505del | ||
| XR_948291.1:n.1621+3_1621+24del | ||
| XM_011543590.2:c.649+3_649+24del | ||
| XM_017009778.2:c.739+3_739+24del | ||
| XR_001742215.1:n.1522+3_1522+24del | ||
| XR_001742216.1:n.1541+3_1541+24del | ||
| XR_427718.2:n.1627+3_1627+24del | ||
| XR_948290.2:n.1394-1526_1394-1505del | ||
| XR_948291.2:n.1621+3_1621+24del | ||
| NM_003060.4:c.1267+3_1267+24del | ||
| NM_001308122.2:c.1339+3_1339+24del |