Linked Data
ClinVar Variation Id:
552361
ClinVar RCV Id:
RCV000667604
dbSNP Id:
rs771808680
ExAC:
17:7123981 TC / T
gnomAD v2:
17-7123981-TC-T
gnomAD v4:
17-7220662-TC-T
MyVariant Identifiers:
chr17:g.7123982del (hg19)
chr17:g.7220665del (hg38)
chr17:g.7220663del (hg38)
ERepo:
CA8337611/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220665del , CM000679.2:g.7220665del | GRCh38 |
| NC_000017.10:g.7123984del , CM000679.1:g.7123984del | GRCh37 |
| NC_000017.9:g.7064708del | NCBI36 |
| NG_007975.1:g.5832del | |
| NG_008391.2:g.4388del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.266del MANE Select | ENSP00000349297.5:p.Pro89HisfsTer28 | |
| ENST00000322910.9:c.*221del | ENSP00000325395.5:n.*221del | |
| ENST00000350303.9:c.200del | ENSP00000344152.5:p.Pro67HisfsTer28 | |
| ENST00000356839.9:c.266del | ENSP00000349297.5:p.Pro89HisfsTer28 | |
| ENST00000543245.6:c.335del | ENSP00000438689.2:p.Pro112HisfsTer28 | |
| ENST00000577191.5:n.343del | ||
| ENST00000577433.5:n.474del | ||
| ENST00000577857.5:n.229-101del | ||
| ENST00000578269.5:n.713del | ||
| ENST00000578421.1:n.474del | ||
| ENST00000579286.5:n.447del | ||
| ENST00000579886.2:c.201+139del | ENSP00000463246.1:n.201+139del | |
| ENST00000580263.5:n.430del | ||
| ENST00000581562.5:n.313del | ||
| ENST00000582056.5:n.356del | ||
| ENST00000582166.1:n.154del | ||
| ENST00000582356.5:n.465del | ||
| ENST00000583312.5:c.266del | ENSP00000467920.1:p.Pro89HisfsTer28 | |
| ENST00000584103.5:c.266del | ENSP00000465353.1:p.Pro89HisfsTer? | |
| NM_000018.3:c.266del | NP_000009.1:p.Pro89HisfsTer28 | |
| NM_001033859.2:c.200del | NP_001029031.1:p.Pro67HisfsTer28 | |
| NM_001270447.1:c.335del | NP_001257376.1:p.Pro112HisfsTer28 | |
| NM_001270448.1:c.38del | NP_001257377.1:p.Pro13HisfsTer28 | |
| XM_006721516.2:c.266del | XP_006721579.2:p.Pro89HisfsTer28 | |
| XM_011523829.1:c.266del | XP_011522131.1:p.Pro89HisfsTer28 | |
| XM_011523830.1:c.266del | XP_011522132.1:p.Pro89HisfsTer28 | |
| XR_934021.1:n.373del | ||
| XR_934022.1:n.373del | ||
| XR_934023.1:n.373del | ||
| XM_006721516.3:c.266del | XP_006721579.2:p.Pro89HisfsTer28 | |
| XM_011523829.2:c.266del | XP_011522131.1:p.Pro89HisfsTer28 | |
| XM_011523830.2:c.266del | XP_011522132.1:p.Pro89HisfsTer28 | |
| XM_024450741.1:c.266del | XP_024306509.1:p.Pro89HisfsTer28 | |
| XR_934021.2:n.325del | ||
| XR_934022.2:n.325del | ||
| XR_934023.2:n.325del | ||
| NM_000018.4:c.266del MANE Select | NP_000009.1:p.Pro89HisfsTer28 | |
| NM_001033859.3:c.200del | NP_001029031.1:p.Pro67HisfsTer28 | |
| NM_001270447.2:c.335del | NP_001257376.1:p.Pro112HisfsTer28 | |
| NM_001270448.2:c.38del | NP_001257377.1:p.Pro13HisfsTer28 |