UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
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 |