Linked Data
ClinVar Variation Id:
1248482
ClinVar RCV Id:
RCV001652316
dbSNP Id:
rs35999860
gnomAD v2:
17-7124739-CACTGCCCTAGGTCAGGA-C
gnomAD v3:
17-7221420-CACTGCCCTAGGTCAGGA-C
gnomAD v4:
17-7221420-CACTGCCCTAGGTCAGGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221446_7221462del , CM000679.2:g.7221446_7221462del | GRCh38 |
| NC_000017.10:g.7124765_7124781del , CM000679.1:g.7124765_7124781del | GRCh37 |
| NC_000017.9:g.7065489_7065505del | NCBI36 |
| NG_007975.1:g.6613_6629del | |
| NG_008391.2:g.3614_3630del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.478-92_478-76del MANE Select | ENSP00000349297.5:n.478-92_478-76del | |
| ENST00000322910.9:c.*433-92_*433-76del | ENSP00000325395.5:n.*433-92_*433-76del | |
| ENST00000350303.9:c.412-92_412-76del | ENSP00000344152.5:n.412-92_412-76del | |
| ENST00000356839.9:c.478-92_478-76del | ENSP00000349297.5:n.478-92_478-76del | |
| ENST00000543245.6:c.547-92_547-76del | ENSP00000438689.2:n.547-92_547-76del | |
| ENST00000577191.5:n.555-92_555-76del | ||
| ENST00000577433.5:n.686-92_686-76del | ||
| ENST00000577857.5:n.294-92_294-76del | ||
| ENST00000579286.5:n.659-92_659-76del | ||
| ENST00000579886.2:c.316-92_316-76del | ENSP00000463246.1:n.316-92_316-76del | |
| ENST00000580365.1:n.209-92_209-76del | ||
| ENST00000581378.5:c.177-73_177-57del | ||
| ENST00000581562.5:n.524+388_524+404del | ||
| ENST00000582166.1:n.459-92_459-76del | ||
| ENST00000583312.5:c.478-92_478-76del | ENSP00000467920.1:n.478-92_478-76del | |
| ENST00000583760.1:n.168_184del | ||
| NM_000018.3:c.478-92_478-76del | NP_000009.1:n.478-92_478-76del | |
| NM_001033859.2:c.412-92_412-76del | NP_001029031.1:n.412-92_412-76del | |
| NM_001270447.1:c.547-92_547-76del | NP_001257376.1:n.547-92_547-76del | |
| NM_001270448.1:c.250-92_250-76del | NP_001257377.1:n.250-92_250-76del | |
| XM_006721516.2:c.478-92_478-76del | XP_006721579.2:n.478-92_478-76del | |
| XM_011523829.1:c.478-92_478-76del | XP_011522131.1:n.478-92_478-76del | |
| XM_011523830.1:c.478-92_478-76del | XP_011522132.1:n.478-92_478-76del | |
| XR_934021.1:n.585-92_585-76del | ||
| XR_934022.1:n.585-92_585-76del | ||
| XR_934023.1:n.585-92_585-76del | ||
| XM_006721516.3:c.478-92_478-76del | XP_006721579.2:n.478-92_478-76del | |
| XM_011523829.2:c.478-92_478-76del | XP_011522131.1:n.478-92_478-76del | |
| XM_011523830.2:c.478-92_478-76del | XP_011522132.1:n.478-92_478-76del | |
| XM_024450741.1:c.478-92_478-76del | XP_024306509.1:n.478-92_478-76del | |
| XR_934021.2:n.537-92_537-76del | ||
| XR_934022.2:n.537-92_537-76del | ||
| XR_934023.2:n.537-92_537-76del | ||
| NM_000018.4:c.478-92_478-76del MANE Select | NP_000009.1:n.478-92_478-76del | |
| NM_001033859.3:c.412-92_412-76del | NP_001029031.1:n.412-92_412-76del | |
| NM_001270447.2:c.547-92_547-76del | NP_001257376.1:n.547-92_547-76del | |
| NM_001270448.2:c.250-92_250-76del | NP_001257377.1:n.250-92_250-76del |