Linked Data
ClinVar Variation Id:
370277
ClinVar RCV Id:
RCV000412008
dbSNP Id:
rs1057516369
gnomAD v2:
17-7124875-ATC-A
gnomAD v3:
17-7221556-ATC-A
gnomAD v4:
17-7221556-ATC-A
ERepo:
CA16041861/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221557_7221558del , CM000679.2:g.7221557_7221558del | GRCh38 |
| NC_000017.10:g.7124876_7124877del , CM000679.1:g.7124876_7124877del | GRCh37 |
| NC_000017.9:g.7065600_7065601del | NCBI36 |
| NG_007975.1:g.6724_6725del | |
| NG_008391.2:g.3493_3494del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.497_498del MANE Select | ENSP00000349297.5:p.Ile166SerfsTer5 | |
| ENST00000322910.9:c.*452_*453del | ENSP00000325395.5:n.*452_*453del | |
| ENST00000350303.9:c.431_432del | ENSP00000344152.5:p.Ile144SerfsTer5 | |
| ENST00000356839.9:c.497_498del | ENSP00000349297.5:p.Ile166SerfsTer5 | |
| ENST00000543245.6:c.566_567del | ENSP00000438689.2:p.Ile189SerfsTer5 | |
| ENST00000577191.5:n.574_575del | ||
| ENST00000577433.5:n.705_706del | ||
| ENST00000577857.5:n.313_314del | ||
| ENST00000579286.5:n.678_679del | ||
| ENST00000579886.2:c.335_336del | ENSP00000463246.1:p.Ile112SerfsTer5 | |
| ENST00000580365.1:n.228_229del | ||
| ENST00000581378.5:c.215_216del | ||
| ENST00000581562.5:n.525-395_525-394del | ||
| ENST00000582166.1:n.478_479del | ||
| ENST00000583312.5:c.497_498del | ENSP00000467920.1:p.Ile166SerfsTer5 | |
| ENST00000583760.1:n.279_280del | ||
| NM_000018.3:c.497_498del | NP_000009.1:p.Ile166SerfsTer5 | |
| NM_001033859.2:c.431_432del | NP_001029031.1:p.Ile144SerfsTer5 | |
| NM_001270447.1:c.566_567del | NP_001257376.1:p.Ile189SerfsTer5 | |
| NM_001270448.1:c.269_270del | NP_001257377.1:p.Ile90SerfsTer5 | |
| XM_006721516.2:c.497_498del | XP_006721579.2:p.Ile166SerfsTer5 | |
| XM_011523829.1:c.497_498del | XP_011522131.1:p.Ile166SerfsTer5 | |
| XM_011523830.1:c.497_498del | XP_011522132.1:p.Ile166SerfsTer5 | |
| XR_934021.1:n.604_605del | ||
| XR_934022.1:n.604_605del | ||
| XR_934023.1:n.604_605del | ||
| XM_006721516.3:c.497_498del | XP_006721579.2:p.Ile166SerfsTer5 | |
| XM_011523829.2:c.497_498del | XP_011522131.1:p.Ile166SerfsTer5 | |
| XM_011523830.2:c.497_498del | XP_011522132.1:p.Ile166SerfsTer5 | |
| XM_024450741.1:c.497_498del | XP_024306509.1:p.Ile166SerfsTer5 | |
| XR_934021.2:n.556_557del | ||
| XR_934022.2:n.556_557del | ||
| XR_934023.2:n.556_557del | ||
| NM_000018.4:c.497_498del MANE Select | NP_000009.1:p.Ile166SerfsTer5 | |
| NM_001033859.3:c.431_432del | NP_001029031.1:p.Ile144SerfsTer5 | |
| NM_001270447.2:c.566_567del | NP_001257376.1:p.Ile189SerfsTer5 | |
| NM_001270448.2:c.269_270del | NP_001257377.1:p.Ile90SerfsTer5 |