Linked Data
dbSNP Id:
rs749358024
ExAC:
15:43893733 CG / C
gnomAD v2:
15-43893733-CG-C
gnomAD v4:
15-43601535-CG-C
COSMIC:
COSM2188589
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43601542del , CM000677.2:g.43601542del | GRCh38 |
| NC_000015.9:g.43893740del , CM000677.1:g.43893740del | GRCh37 |
| NC_000015.8:g.41681032del | NCBI36 |
| NG_011636.1:g.22265del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4561del (STRC) MANE Select | ENSP00000401513.2:p.Arg1521GlyfsTer15 | |
| ENST00000411560.1:n.142+2009del (CKMT1B) | ||
| ENST00000428650.5:c.*1594del (STRC) | ENSP00000415991.1:n.*1594del | |
| ENST00000440125.5:c.*2353del (STRC) | ENSP00000394866.1:n.*2353del | |
| ENST00000448437.6:n.1681del (STRC) | ||
| ENST00000450892.6:c.4561del (STRC) | ENSP00000401513.2:p.Arg1521GlyfsTer15 | |
| ENST00000460952.1:n.140del (STRC) | ||
| ENST00000471703.5:n.2515del (STRC) | ||
| ENST00000485556.5:n.3416del (STRC) | ||
| ENST00000493750.1:n.357del (STRC) | ||
| ENST00000541030.5:c.2242del (STRC) | ENSP00000440413.1:p.Arg748GlyfsTer15 | |
| NM_153700.2:c.4561del (STRC) MANE Select | NP_714544.1:p.Arg1521GlyfsTer15 | |
| XM_011521277.1:c.5050del (STRC) | XP_011519579.1:p.Arg1684GlyfsTer15 | |
| XM_011521278.1:c.4666del (STRC) | XP_011519580.1:p.Arg1556GlyfsTer15 | |
| XM_011521279.1:c.4666del (STRC) | XP_011519581.1:p.Arg1556GlyfsTer15 |