Linked Data
ClinVar Variation Id:
3074328
ClinVar RCV Id:
RCV004012870
dbSNP Id:
rs1759343081
gnomAD v4:
6-7579349-TAAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7579352_7579354del , CM000668.2:g.7579352_7579354del | GRCh38 |
| NC_000006.11:g.7579585_7579587del , CM000668.1:g.7579585_7579587del | GRCh37 |
| NC_000006.10:g.7524584_7524586del | NCBI36 |
| NG_008803.1:g.42716_42718del , LRG_423:g.42716_42718del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.3162_3164del | ENSP00000518230.1:p.Lys1054del | |
| ENST00000379802.8:c.3162_3164del MANE Select | ENSP00000369129.3:p.Lys1054del | |
| ENST00000379802.7:c.3162_3164del | ENSP00000369129.3:p.Lys1054del | |
| ENST00000418664.2:c.3162_3164del | ENSP00000396591.2:p.Lys1054del | |
| NM_001008844.1:c.3162_3164del | NP_001008844.1:p.Lys1054del | |
| NM_004415.2:c.3162_3164del , LRG_423t1:c.3162_3164del | NP_004406.2:p.Lys1054del | |
| XM_011514323.1:c.3162_3164del | XP_011512625.1:p.Lys1054del | |
| NM_001008844.2:c.3162_3164del | NP_001008844.1:p.Lys1054del | |
| NM_001319034.1:c.3162_3164del | NP_001305963.1:p.Lys1054del | |
| NM_004415.3:c.3162_3164del | NP_004406.2:p.Lys1054del | |
| NM_004415.4:c.3162_3164del MANE Select | NP_004406.2:p.Lys1054del | |
| NM_001008844.3:c.3162_3164del | NP_001008844.1:p.Lys1054del | |
| NM_001319034.2:c.3162_3164del | NP_001305963.1:p.Lys1054del |