Linked Data
ClinVar Variation Id:
1073342
ClinVar RCV Id:
RCV001386322
dbSNP Id:
rs1186576451
gnomAD v3:
17-7221969-TTC-T
gnomAD v4:
17-7221969-TTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221971_7221972del , CM000679.2:g.7221971_7221972del | GRCh38 |
| NC_000017.10:g.7125290_7125291del , CM000679.1:g.7125290_7125291del | GRCh37 |
| NC_000017.9:g.7066014_7066015del | NCBI36 |
| NG_007975.1:g.7138_7139del | |
| NG_008391.2:g.3080_3081del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.642_643del MANE Select | ENSP00000349297.5:p.Phe214LeufsTer? | |
| ENST00000322910.9:c.*597_*598del | ENSP00000325395.5:n.*597_*598del | |
| ENST00000350303.9:c.576_577del | ENSP00000344152.5:p.Phe192LeufsTer? | |
| ENST00000356839.9:c.642_643del | ENSP00000349297.5:p.Phe214LeufsTer? | |
| ENST00000543245.6:c.711_712del | ENSP00000438689.2:p.Phe237LeufsTer? | |
| ENST00000577191.5:n.719_720del | ||
| ENST00000577857.5:n.458_459del | ||
| ENST00000579286.5:n.823_824del | ||
| ENST00000580365.1:n.373_374del | ||
| ENST00000581378.5:c.360_361del | ||
| ENST00000581562.5:n.544_545del | ||
| ENST00000582379.1:n.26_27del | ||
| ENST00000583312.5:c.657_658del | ENSP00000467920.1:p.Phe219LeufsTer? | |
| ENST00000583760.1:n.424_425del | ||
| NM_000018.3:c.642_643del | NP_000009.1:p.Phe214LeufsTer? | |
| NM_001033859.2:c.576_577del | NP_001029031.1:p.Phe192LeufsTer? | |
| NM_001270447.1:c.711_712del | NP_001257376.1:p.Phe237LeufsTer? | |
| NM_001270448.1:c.414_415del | NP_001257377.1:p.Phe138LeufsTer? | |
| XM_006721516.2:c.642_643del | XP_006721579.2:p.Phe214LeufsTer? | |
| XM_011523829.1:c.642_643del | XP_011522131.1:p.Phe214LeufsTer? | |
| XM_011523830.1:c.642_643del | XP_011522132.1:p.Phe214LeufsTer? | |
| XR_934021.1:n.749_750del | ||
| XR_934022.1:n.749_750del | ||
| XR_934023.1:n.749_750del | ||
| XM_006721516.3:c.642_643del | XP_006721579.2:p.Phe214LeufsTer? | |
| XM_011523829.2:c.642_643del | XP_011522131.1:p.Phe214LeufsTer? | |
| XM_011523830.2:c.642_643del | XP_011522132.1:p.Phe214LeufsTer? | |
| XM_024450741.1:c.642_643del | XP_024306509.1:p.Phe214LeufsTer? | |
| XR_934021.2:n.701_702del | ||
| XR_934022.2:n.701_702del | ||
| XR_934023.2:n.701_702del | ||
| NM_000018.4:c.642_643del MANE Select | NP_000009.1:p.Phe214LeufsTer? | |
| NM_001033859.3:c.576_577del | NP_001029031.1:p.Phe192LeufsTer? | |
| NM_001270447.2:c.711_712del | NP_001257376.1:p.Phe237LeufsTer? | |
| NM_001270448.2:c.414_415del | NP_001257377.1:p.Phe138LeufsTer? |