Linked Data
ClinVar Variation Id:
949606
ClinVar RCV Id:
RCV001221102
dbSNP Id:
rs754566092
ExAC:
6:7574978 ACTGT / A
gnomAD v2:
6-7574978-ACTGT-A
gnomAD v4:
6-7574745-ACTGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7574749_7574752del , CM000668.2:g.7574749_7574752del | GRCh38 |
| NC_000006.11:g.7574982_7574985del , CM000668.1:g.7574982_7574985del | GRCh37 |
| NC_000006.10:g.7519981_7519984del | NCBI36 |
| NG_008803.1:g.38113_38116del , LRG_423:g.38113_38116del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.2390_2393del | ENSP00000518230.1:p.Val797AlafsTer14 | |
| ENST00000684395.1:n.1031_1034del | ||
| ENST00000379802.8:c.2390_2393del MANE Select | ENSP00000369129.3:p.Val797AlafsTer14 | |
| ENST00000379802.7:c.2390_2393del | ENSP00000369129.3:p.Val797AlafsTer14 | |
| ENST00000418664.2:c.2390_2393del | ENSP00000396591.2:p.Val797AlafsTer14 | |
| NM_001008844.1:c.2390_2393del | NP_001008844.1:p.Val797AlafsTer14 | |
| NM_004415.2:c.2390_2393del , LRG_423t1:c.2390_2393del | NP_004406.2:p.Val797AlafsTer14 | |
| XM_011514323.1:c.2390_2393del | XP_011512625.1:p.Val797AlafsTer14 | |
| NM_001008844.2:c.2390_2393del | NP_001008844.1:p.Val797AlafsTer14 | |
| NM_001319034.1:c.2390_2393del | NP_001305963.1:p.Val797AlafsTer14 | |
| NM_004415.3:c.2390_2393del | NP_004406.2:p.Val797AlafsTer14 | |
| NM_004415.4:c.2390_2393del MANE Select | NP_004406.2:p.Val797AlafsTer14 | |
| NM_001008844.3:c.2390_2393del | NP_001008844.1:p.Val797AlafsTer14 | |
| NM_001319034.2:c.2390_2393del | NP_001305963.1:p.Val797AlafsTer14 |