Linked Data
dbSNP Id:
rs746877769
ExAC:
15:43893729 TC / T
gnomAD v2:
15-43893729-TC-T
gnomAD v3:
15-43601531-TC-T
gnomAD v4:
15-43601531-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43601535del , CM000677.2:g.43601535del | GRCh38 |
| NC_000015.9:g.43893733del , CM000677.1:g.43893733del | GRCh37 |
| NC_000015.8:g.41681025del | NCBI36 |
| NG_011636.1:g.22269del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4565del (STRC) MANE Select | ENSP00000401513.2:p.Gly1522AspfsTer14 | |
| ENST00000411560.1:n.142+2002del (CKMT1B) | ||
| ENST00000428650.5:c.*1598del (STRC) | ENSP00000415991.1:n.*1598del | |
| ENST00000440125.5:c.*2357del (STRC) | ENSP00000394866.1:n.*2357del | |
| ENST00000448437.6:n.1685del (STRC) | ||
| ENST00000450892.6:c.4565del (STRC) | ENSP00000401513.2:p.Gly1522AspfsTer14 | |
| ENST00000460952.1:n.144del (STRC) | ||
| ENST00000471703.5:n.2519del (STRC) | ||
| ENST00000485556.5:n.3420del (STRC) | ||
| ENST00000493750.1:n.361del (STRC) | ||
| ENST00000541030.5:c.2246del (STRC) | ENSP00000440413.1:p.Gly749AspfsTer14 | |
| NM_153700.2:c.4565del (STRC) MANE Select | NP_714544.1:p.Gly1522AspfsTer14 | |
| XM_011521277.1:c.5054del (STRC) | XP_011519579.1:p.Gly1685AspfsTer14 | |
| XM_011521278.1:c.4670del (STRC) | XP_011519580.1:p.Gly1557AspfsTer14 | |
| XM_011521279.1:c.4670del (STRC) | XP_011519581.1:p.Gly1557AspfsTer14 |