Linked Data
dbSNP Id:
rs547847682
ExAC:
17:7124791 ACT / A
gnomAD v2:
17-7124791-ACT-A
gnomAD v3:
17-7221472-ACT-A
gnomAD v4:
17-7221472-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221476_7221477del , CM000679.2:g.7221476_7221477del | GRCh38 |
| NC_000017.10:g.7124795_7124796del , CM000679.1:g.7124795_7124796del | GRCh37 |
| NC_000017.9:g.7065519_7065520del | NCBI36 |
| NG_007975.1:g.6643_6644del | |
| NG_008391.2:g.3577_3578del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.478-62_478-61del MANE Select | ENSP00000349297.5:n.478-62_478-61del | |
| ENST00000322910.9:c.*433-62_*433-61del | ENSP00000325395.5:n.*433-62_*433-61del | |
| ENST00000350303.9:c.412-62_412-61del | ENSP00000344152.5:n.412-62_412-61del | |
| ENST00000356839.9:c.478-62_478-61del | ENSP00000349297.5:n.478-62_478-61del | |
| ENST00000543245.6:c.547-62_547-61del | ENSP00000438689.2:n.547-62_547-61del | |
| ENST00000577191.5:n.555-62_555-61del | ||
| ENST00000577433.5:n.686-62_686-61del | ||
| ENST00000577857.5:n.294-62_294-61del | ||
| ENST00000579286.5:n.659-62_659-61del | ||
| ENST00000579886.2:c.316-62_316-61del | ENSP00000463246.1:n.316-62_316-61del | |
| ENST00000580365.1:n.209-62_209-61del | ||
| ENST00000581378.5:c.177-43_177-42del | ||
| ENST00000581562.5:n.524+418_524+419del | ||
| ENST00000582166.1:n.459-62_459-61del | ||
| ENST00000583312.5:c.478-62_478-61del | ENSP00000467920.1:n.478-62_478-61del | |
| ENST00000583760.1:n.198_199del | ||
| NM_000018.3:c.478-62_478-61del | NP_000009.1:n.478-62_478-61del | |
| NM_001033859.2:c.412-62_412-61del | NP_001029031.1:n.412-62_412-61del | |
| NM_001270447.1:c.547-62_547-61del | NP_001257376.1:n.547-62_547-61del | |
| NM_001270448.1:c.250-62_250-61del | NP_001257377.1:n.250-62_250-61del | |
| XM_006721516.2:c.478-62_478-61del | XP_006721579.2:n.478-62_478-61del | |
| XM_011523829.1:c.478-62_478-61del | XP_011522131.1:n.478-62_478-61del | |
| XM_011523830.1:c.478-62_478-61del | XP_011522132.1:n.478-62_478-61del | |
| XR_934021.1:n.585-62_585-61del | ||
| XR_934022.1:n.585-62_585-61del | ||
| XR_934023.1:n.585-62_585-61del | ||
| XM_006721516.3:c.478-62_478-61del | XP_006721579.2:n.478-62_478-61del | |
| XM_011523829.2:c.478-62_478-61del | XP_011522131.1:n.478-62_478-61del | |
| XM_011523830.2:c.478-62_478-61del | XP_011522132.1:n.478-62_478-61del | |
| XM_024450741.1:c.478-62_478-61del | XP_024306509.1:n.478-62_478-61del | |
| XR_934021.2:n.537-62_537-61del | ||
| XR_934022.2:n.537-62_537-61del | ||
| XR_934023.2:n.537-62_537-61del | ||
| NM_000018.4:c.478-62_478-61del MANE Select | NP_000009.1:n.478-62_478-61del | |
| NM_001033859.3:c.412-62_412-61del | NP_001029031.1:n.412-62_412-61del | |
| NM_001270447.2:c.547-62_547-61del | NP_001257376.1:n.547-62_547-61del | |
| NM_001270448.2:c.250-62_250-61del | NP_001257377.1:n.250-62_250-61del |