WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
232018
dbSNP Id:
rs876659497
ExAC:
17:56780604 CAT / C
gnomAD v2:
17-56780604-CAT-C
gnomAD v4:
17-58703243-CAT-C
MyVariant Identifiers:
chr17:g.56780607_56780608del (hg19)
chr17:g.56780605_56780606del (hg19)
chr17:g.58703246_58703247del (hg38)
chr17:g.58703244_58703245del (hg38)
PubMed:
PMID:24549055
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58703246_58703247del , CM000679.2:g.58703246_58703247del | GRCh38 |
| NC_000017.10:g.56780607_56780608del , CM000679.1:g.56780607_56780608del | GRCh37 |
| NC_000017.9:g.54135606_54135607del | NCBI36 |
| NG_023199.1:g.15645_15646del , LRG_314:g.15645_15646del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461271.6:c.271_272del | ENSP00000464056.2:p.Ile91LeufsTer7 | |
| ENST00000697677.1:n.1703_1704del | ||
| ENST00000697678.1:n.524_525del | ||
| ENST00000697679.1:n.1696_1697del | ||
| ENST00000697680.1:c.*1486_*1487del | ENSP00000513392.1:n.*1486_*1487del | |
| ENST00000697681.1:c.*1638_*1639del | ENSP00000513393.1:n.*1638_*1639del | |
| ENST00000697683.1:c.*1486_*1487del | ENSP00000513395.1:n.*1486_*1487del | |
| ENST00000697684.1:n.682_683del | ||
| ENST00000697685.1:c.*1319_*1320del | ENSP00000513396.1:n.*1319_*1320del | |
| ENST00000697686.1:c.271_272del | ENSP00000513397.1:p.Ile91LeufsTer7 | |
| ENST00000697687.1:n.501_502del | ||
| ENST00000697688.1:n.668_669del | ||
| ENST00000697689.1:c.*1158_*1159del | ENSP00000513398.1:n.*1158_*1159del | |
| ENST00000697690.1:c.622_623del | ENSP00000513399.1:p.Ile208LeufsTer7 | |
| ENST00000697691.1:c.*594_*595del | ENSP00000513400.1:n.*594_*595del | |
| ENST00000697692.1:c.*634_*635del | ENSP00000513401.1:n.*634_*635del | |
| ENST00000697694.1:c.271_272del | ENSP00000513402.1:p.Ile91LeufsTer7 | |
| ENST00000697695.1:n.1229_1230del | ||
| ENST00000337432.9:c.622_623del MANE Select | ENSP00000336701.4:p.Ile208LeufsTer7 | |
| ENST00000337432.8:c.622_623del | ENSP00000336701.4:p.Ile208LeufsTer7 | |
| ENST00000413590.5:c.260_261del | ||
| ENST00000425173.5:c.418_419del | ENSP00000407282.1:p.Ile140LeufsTer7 | |
| ENST00000461271.5:c.271_272del | ENSP00000464056.1:p.Ile91LeufsTer7 | |
| ENST00000475762.5:c.*1325_*1326del | ENSP00000432421.1:n.*1325_*1326del | |
| ENST00000482007.5:c.*50_*51del | ENSP00000433332.1:n.*50_*51del | |
| ENST00000487525.5:c.*50_*51del | ENSP00000431637.1:n.*50_*51del | |
| ENST00000487921.5:n.534_535del | ||
| ENST00000583539.5:c.622_623del | ENSP00000463121.1:p.Ile208LeufsTer7 | |
| ENST00000584617.5:c.344_345del | ||
| NM_058216.2:c.622_623del | NP_478123.1:p.Ile208LeufsTer7 | |
| NR_103872.1:n.526_527del | ||
| XM_006722001.2:c.622_623del | XP_006722064.1:p.Ile208LeufsTer7 | |
| XM_006722002.2:c.622_623del | XP_006722065.1:p.Ile208LeufsTer7 | |
| XM_006722004.2:c.271_272del | XP_006722067.1:p.Ile91LeufsTer7 | |
| XM_006722005.2:c.271_272del | XP_006722068.1:p.Ile91LeufsTer7 | |
| XM_011525092.1:c.271_272del | XP_011523394.1:p.Ile91LeufsTer7 | |
| XM_011525093.1:c.271_272del | XP_011523395.1:p.Ile91LeufsTer7 | |
| XM_011525094.1:c.271_272del | XP_011523396.1:p.Ile91LeufsTer7 | |
| XR_934513.1:n.695_696del | ||
| XR_934514.1:n.695_696del | ||
| XM_006722001.4:c.622_623del | XP_006722064.1:p.Ile208LeufsTer7 | |
| XM_006722002.4:c.622_623del | XP_006722065.1:p.Ile208LeufsTer7 | |
| XM_006722004.3:c.271_272del | XP_006722067.1:p.Ile91LeufsTer7 | |
| XM_006722005.3:c.271_272del | XP_006722068.1:p.Ile91LeufsTer7 | |
| XM_011525092.2:c.271_272del | XP_011523394.1:p.Ile91LeufsTer7 | |
| XM_011525093.2:c.271_272del | XP_011523395.1:p.Ile91LeufsTer7 | |
| XM_011525094.2:c.271_272del | XP_011523396.1:p.Ile91LeufsTer7 | |
| XM_017024914.1:c.271_272del | XP_016880403.1:p.Ile91LeufsTer7 | |
| XM_017024915.1:c.271_272del | XP_016880404.1:p.Ile91LeufsTer7 | |
| XM_017024916.1:c.271_272del | XP_016880405.1:p.Ile91LeufsTer7 | |
| XM_017024917.1:c.271_272del | XP_016880406.1:p.Ile91LeufsTer7 | |
| XM_017024918.2:c.271_272del | XP_016880407.1:p.Ile91LeufsTer7 | |
| XM_017024919.1:c.271_272del | XP_016880408.1:p.Ile91LeufsTer7 | |
| XR_934513.3:n.1126_1127del | ||
| XR_934514.3:n.1126_1127del | ||
| NM_058216.3:c.622_623del MANE Select | NP_478123.1:p.Ile208LeufsTer7 | |
| NR_103872.2:n.497_498del |