Linked Data
ClinVar Variation Id:
2675348
ClinVar RCV Id:
RCV003468077
dbSNP Id:
rs1343211837
gnomAD v2:
15-80452109-CA-C
gnomAD v3:
15-80159767-CA-C
gnomAD v4:
15-80159767-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80159768del , CM000677.2:g.80159768del | GRCh38 |
| NC_000015.9:g.80452110del , CM000677.1:g.80452110del | GRCh37 |
| NC_000015.8:g.78239165del | NCBI36 |
| NG_012833.1:g.11770del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.205del | ENSP00000507680.1:p.Ser69AlafsTer23 | |
| ENST00000682012.1:n.280del | ||
| ENST00000683593.1:n.82del | ||
| ENST00000684363.1:c.205del | ENSP00000507314.1:p.Ser69AlafsTer23 | |
| ENST00000684569.1:n.250del | ||
| ENST00000561421.6:c.205del MANE Select | ENSP00000453347.2:p.Ser69AlafsTer23 | |
| ENST00000646551.1:n.1692del | ||
| ENST00000261755.9:c.205del | ENSP00000261755.5:p.Ser69AlafsTer23 | |
| ENST00000407106.5:c.205del | ENSP00000385080.1:p.Ser69AlafsTer23 | |
| ENST00000537726.5:n.287del | ||
| ENST00000539156.5:c.-6del | ENSP00000454271.1:n.-6del | |
| ENST00000558022.5:c.205del | ENSP00000453152.1:p.Ser69AlafsTer23 | |
| ENST00000558767.5:n.466del | ||
| ENST00000561369.1:n.285del | ||
| ENST00000561421.5:c.205del | ENSP00000453347.1:p.Ser69AlafsTer23 | |
| NM_000137.2:c.205del | NP_000128.1:p.Ser69AlafsTer23 | |
| XM_024449872.1:c.205del | XP_024305640.1:p.Ser69AlafsTer23 | |
| NM_000137.4:c.205del MANE Select | NP_000128.1:p.Ser69AlafsTer23 | |
| NM_001374377.1:c.205del | NP_001361306.1:p.Ser69AlafsTer23 | |
| NM_001374380.1:c.205del | NP_001361309.1:p.Ser69AlafsTer23 |