Linked Data
dbSNP Id:
rs776743331
ExAC:
8:145740623 GTC / G
gnomAD v2:
8-145740623-GTC-G
gnomAD v4:
8-144515239-GTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144515243_144515244del , CM000670.2:g.144515243_144515244del | GRCh38 |
| NC_000008.10:g.145740627_145740628del , CM000670.1:g.145740627_145740628del | GRCh37 |
| NC_000008.9:g.145711435_145711436del | NCBI36 |
| NG_016430.1:g.7586_7587del | |
| NG_033083.1:g.2279_2280del | |
| NG_016430.2:g.7586_7587del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000688394.1:n.415_416del | ||
| ENST00000617875.6:c.1392_1393del | ||
| ENST00000532846.2:c.277_278del | ||
| ENST00000617875.4:c.1392_1393del | ||
| ENST00000621189.4:c.321_322del | ||
| NM_004260.3:c.1392_1393del | ||
| XM_011517380.1:c.1392_1393del | ||
| XM_011517381.1:c.1296_1297del | ||
| XM_011517382.1:c.1392_1393del | ||
| XM_011517383.1:c.1392_1393del | ||
| XM_011517384.1:c.1392_1393del | ||
| XM_011517385.1:c.255_256del | ||
| XR_928366.1:n.1433_1434del | ||
| XR_928367.1:n.1433_1434del | ||
| XR_928368.1:n.1435_1436del | ||
| XM_011517384.3:c.1392_1393del | ||
| XM_017013991.2:c.1392_1393del | ||
| XM_017013992.2:c.1392_1393del | ||
| XM_017013993.2:c.1392_1393del | ||
| XM_017013994.2:c.1296_1297del | ||
| XM_017013995.2:c.1392_1393del | ||
| XM_017013996.2:c.1392_1393del | ||
| XM_017013997.2:c.1392_1393del | ||
| XM_017013998.1:c.1392_1393del | ||
| XM_017013999.2:c.1392_1393del | ||
| XM_017014000.1:c.255_256del | ||
| XM_017014001.2:c.255_256del | ||
| XR_001745626.2:n.1429_1430del | ||
| XR_001745627.2:n.1429_1430del | ||
| XR_001745628.2:n.1429_1430del | ||
| XR_001745629.2:n.1429_1430del | ||
| XR_001745630.2:n.1429_1430del | ||
| NM_004260.4:c.1392_1393del |