Linked Data
ClinVar Variation Id:
2993938
ClinVar RCV Id:
RCV003853513
dbSNP Id:
rs1378659602
gnomAD v2:
14-91739779-CTCAG-C
gnomAD v4:
14-91273435-CTCAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91273442_91273445del , CM000676.2:g.91273442_91273445del | GRCh38 |
| NC_000014.8:g.91739786_91739789del , CM000676.1:g.91739786_91739789del | GRCh37 |
| NC_000014.7:g.90809539_90809542del | NCBI36 |
| NG_033118.1:g.149406_149409del | |
| NG_033118.2:g.149406_149409del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5273_5276del MANE Select | ENSP00000374507.6:p.Thr1758ArgfsTer? | |
| ENST00000331194.8:c.845_848del | ENSP00000330332.8:p.Thr282ArgfsTer? | |
| ENST00000389857.10:c.5273_5276del | ENSP00000374507.6:p.Thr1758ArgfsTer? | |
| ENST00000556726.5:c.1501_1504del | ||
| NM_001080414.3:c.5273_5276del | NP_001073883.2:p.Thr1758ArgfsTer? | |
| XM_011536796.1:c.5165_5168del | XP_011535098.1:p.Thr1722ArgfsTer? | |
| XM_011536796.2:c.5165_5168del | XP_011535098.1:p.Thr1722ArgfsTer? | |
| XM_017021336.1:c.2354_2357del | XP_016876825.1:p.Thr785ArgfsTer? | |
| NM_001080414.4:c.5273_5276del MANE Select | NP_001073883.2:p.Thr1758ArgfsTer? |