Linked Data
ClinVar Variation Id:
3075877
ClinVar RCV Id:
RCV004018195
gnomAD v4:
6-7579974-CAGGCCACTGAGCAGCGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7579979_7579995del , CM000668.2:g.7579979_7579995del | GRCh38 |
| NC_000006.11:g.7580212_7580228del , CM000668.1:g.7580212_7580228del | GRCh37 |
| NC_000006.10:g.7525211_7525227del | NCBI36 |
| NG_008803.1:g.43343_43359del , LRG_423:g.43343_43359del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.3789_3805del | ENSP00000518230.1:p.Thr1264SerfsTer2 | |
| ENST00000379802.8:c.3789_3805del MANE Select | ENSP00000369129.3:p.Thr1264SerfsTer2 | |
| ENST00000379802.7:c.3789_3805del | ENSP00000369129.3:p.Thr1264SerfsTer2 | |
| ENST00000418664.2:c.3582+207_3582+223del | ENSP00000396591.2:n.3582+207_3582+223del | |
| NM_001008844.1:c.3582+207_3582+223del | NP_001008844.1:n.3582+207_3582+223del | |
| NM_004415.2:c.3789_3805del , LRG_423t1:c.3789_3805del | NP_004406.2:p.Thr1264SerfsTer2 | |
| XM_011514323.1:c.3789_3805del | XP_011512625.1:p.Thr1264SerfsTer2 | |
| NM_001008844.2:c.3582+207_3582+223del | NP_001008844.1:n.3582+207_3582+223del | |
| NM_001319034.1:c.3789_3805del | NP_001305963.1:p.Thr1264SerfsTer2 | |
| NM_004415.3:c.3789_3805del | NP_004406.2:p.Thr1264SerfsTer2 | |
| NM_004415.4:c.3789_3805del MANE Select | NP_004406.2:p.Thr1264SerfsTer2 | |
| NM_001008844.3:c.3582+207_3582+223del | NP_001008844.1:n.3582+207_3582+223del | |
| NM_001319034.2:c.3789_3805del | NP_001305963.1:p.Thr1264SerfsTer2 |