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:
92275
ClinVar RCV Id:
RCV000174651
dbSNP Id:
rs398123082
MyVariant Identifiers:
chr17:g.7127343dup (hg19)
chr17:g.7127343dupG (hg19)
chr17:g.7224024dupG (hg38)
PubMed:
PMID:23757202
ERepo:
CA220196/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224024dup , CM000679.2:g.7224024dup | GRCh38 |
| NC_000017.10:g.7127343dup , CM000679.1:g.7127343dup | GRCh37 |
| NC_000017.9:g.7068067dup | NCBI36 |
| NG_007975.1:g.9191dup | |
| NG_008391.2:g.1030dup | |
| NG_033038.1:g.15524dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.1389dup MANE Select | ENSP00000349297.5:p.Thr464AspfsTer3 | |
| ENST00000322910.9:c.*1344dup | ENSP00000325395.5:n.*1344dup | |
| ENST00000350303.9:c.1323dup | ENSP00000344152.5:p.Thr442AspfsTer3 | |
| ENST00000356839.9:c.1389dup | ENSP00000349297.5:p.Thr464AspfsTer3 | |
| ENST00000542255.6:c.247dup | ||
| ENST00000543245.6:c.1458dup | ENSP00000438689.2:p.Thr487AspfsTer3 | |
| ENST00000578711.1:n.520dup | ||
| ENST00000579425.5:n.505dup | ||
| ENST00000579546.1:c.226dup | ||
| ENST00000579894.5:n.100dup | ||
| ENST00000583074.5:n.108dup | ||
| ENST00000583850.5:n.164dup | ||
| ENST00000583858.5:c.418dup | ||
| ENST00000585203.6:n.580dup | ||
| NM_000018.3:c.1389dup | NP_000009.1:p.Thr464AspfsTer3 | |
| NM_001033859.2:c.1323dup | NP_001029031.1:p.Thr442AspfsTer3 | |
| NM_001270447.1:c.1458dup | NP_001257376.1:p.Thr487AspfsTer3 | |
| NM_001270448.1:c.1161dup | NP_001257377.1:p.Thr388AspfsTer3 | |
| XM_006721516.2:c.1389dup | XP_006721579.2:p.Thr464AspfsTer3 | |
| XM_011523829.1:c.1389dup | XP_011522131.1:p.Thr464AspfsTer3 | |
| XM_011523830.1:c.1389dup | XP_011522132.1:p.Thr464AspfsTer3 | |
| XR_934021.1:n.1496dup | ||
| XR_934022.1:n.1496dup | ||
| XR_934023.1:n.1496dup | ||
| XM_006721516.3:c.1389dup | XP_006721579.2:p.Thr464AspfsTer3 | |
| XM_011523829.2:c.1389dup | XP_011522131.1:p.Thr464AspfsTer3 | |
| XM_011523830.2:c.1389dup | XP_011522132.1:p.Thr464AspfsTer3 | |
| XM_024450741.1:c.1389dup | XP_024306509.1:p.Thr464AspfsTer3 | |
| XR_934021.2:n.1448dup | ||
| XR_934022.2:n.1448dup | ||
| XR_934023.2:n.1448dup | ||
| NM_000018.4:c.1389dup MANE Select | NP_000009.1:p.Thr464AspfsTer3 | |
| NM_001033859.3:c.1323dup | NP_001029031.1:p.Thr442AspfsTer3 | |
| NM_001270447.2:c.1458dup | NP_001257376.1:p.Thr487AspfsTer3 | |
| NM_001270448.2:c.1161dup | NP_001257377.1:p.Thr388AspfsTer3 |