Linked Data
ClinVar Variation Id:
2877640
ClinVar RCV Id:
RCV003715031
dbSNP Id:
rs1217568840
gnomAD v4:
14-91305928-TAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91305932_91305934del , CM000676.2:g.91305932_91305934del | GRCh38 |
| NC_000014.8:g.91772276_91772278del , CM000676.1:g.91772276_91772278del | GRCh37 |
| NC_000014.7:g.90842029_90842031del | NCBI36 |
| NG_033118.1:g.116914_116916del | |
| NG_033118.2:g.116914_116916del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.3196-5_3196-3del MANE Select | ENSP00000374507.6:n.3196-5_3196-3del | |
| ENST00000389857.10:c.3196-5_3196-3del | ENSP00000374507.6:n.3196-5_3196-3del | |
| NM_001080414.3:c.3196-5_3196-3del | NP_001073883.2:n.3196-5_3196-3del | |
| XM_005267691.3:c.3196-5_3196-3del | XP_005267748.1:n.3196-5_3196-3del | |
| XM_011536796.1:c.3088-5_3088-3del | XP_011535098.1:n.3088-5_3088-3del | |
| XR_429316.2:n.3324-5_3324-3del | ||
| XR_943459.1:n.3324-5_3324-3del | ||
| XM_005267691.5:c.3196-5_3196-3del | XP_005267748.1:n.3196-5_3196-3del | |
| XM_011536796.2:c.3088-5_3088-3del | XP_011535098.1:n.3088-5_3088-3del | |
| XM_017021335.2:c.3196-5_3196-3del | XP_016876824.1:n.3196-5_3196-3del | |
| XM_017021336.1:c.277-5_277-3del | XP_016876825.1:n.277-5_277-3del | |
| XR_429316.4:n.3322-5_3322-3del | ||
| NM_001080414.4:c.3196-5_3196-3del MANE Select | NP_001073883.2:n.3196-5_3196-3del |