Linked Data
dbSNP Id:
rs751417897
ExAC:
9:130575660 CCCT / C
gnomAD v2:
9-130575660-CCCT-C
gnomAD v3:
9-127813381-CCCT-C
gnomAD v4:
9-127813381-CCCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127813383_127813385del , CM000671.2:g.127813383_127813385del | GRCh38 |
| NC_000009.11:g.130575662_130575664del , CM000671.1:g.130575662_130575664del | GRCh37 |
| NC_000009.10:g.129615483_129615485del | NCBI36 |
| NG_009551.1:g.46385_46387del , LRG_589:g.46385_46387del | |
| NG_023245.1:g.15509_15511del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373247.7:c.1543_1545del MANE Select | ENSP00000362344.2:p.Leu515del | |
| ENST00000373225.7:c.1393_1395del | ENSP00000362322.3:p.Leu465del | |
| ENST00000373228.5:c.*200_*202del | ENSP00000362325.1:n.*200_*202del | |
| ENST00000373247.6:c.1543_1545del | ENSP00000362344.2:p.Leu515del | |
| ENST00000393706.6:c.1465_1467del | ENSP00000377309.2:p.Leu489del | |
| ENST00000460181.5:n.1531_1533del | ||
| ENST00000467826.5:n.709+60_709+62del | ||
| ENST00000475270.1:n.369_371del | ||
| ENST00000630236.2:c.*267_*269del | ENSP00000486766.1:n.*267_*269del | |
| NM_001018078.2:c.1393_1395del | NP_001018088.1:p.Leu465del | |
| NM_001288803.1:c.1465_1467del | NP_001275732.1:p.Leu489del | |
| NM_004957.5:c.1543_1545del | NP_004948.4:p.Leu515del | |
| NR_110170.1:n.1591_1593del | ||
| XM_005251864.2:c.1483+60_1483+62del | XP_005251921.1:n.1483+60_1483+62del | |
| XM_011518437.1:c.1393_1395del | XP_011516739.1:p.Leu465del | |
| XM_011518438.1:c.1393_1395del | XP_011516740.1:p.Leu465del | |
| XM_011518439.1:c.700_702del | XP_011516741.1:p.Leu234del | |
| XR_242581.2:n.1440_1442del | ||
| XR_242582.2:n.1380+60_1380+62del | ||
| XM_005251864.4:c.1483+60_1483+62del | XP_005251921.1:n.1483+60_1483+62del | |
| XM_011518439.2:c.700_702del | XP_011516741.1:p.Leu234del | |
| XM_017014565.2:c.1333+60_1333+62del | XP_016870054.1:n.1333+60_1333+62del | |
| XM_017014566.1:c.700_702del | XP_016870055.1:p.Leu234del | |
| XR_242581.4:n.1438_1440del | ||
| XR_242582.4:n.1378+60_1378+62del | ||
| NM_004957.6:c.1543_1545del MANE Select | NP_004948.4:p.Leu515del |