Linked Data
ClinVar Variation Id:
5082
dbSNP Id:
rs80356530
ExAC:
3:193384956 CAGTT / C
gnomAD v2:
3-193384956-CAGTT-C
gnomAD v3:
3-193667167-CAGTT-C
gnomAD v4:
3-193667167-CAGTT-C
MyVariant Identifiers:
chr3:g.193384959_193384962del (hg19)
chr3:g.193384957_193384960del (hg19)
chr3:g.193384959_193384962delTTAG (hg19)
chr3:g.193667170_193667173del (hg38)
chr3:g.193667169_193667172del (hg38)
chr3:g.193667168_193667171del (hg38)
PubMed:
PMID:9490303
PMID:9917792
PMID:11017079
PMID:11440988
PMID:11440989
PMID:11810270
PMID:12036970
PMID:14961560
PMID:15505825
PMID:16513463
PMID:18222991
PMID:20157015
PMID:20301426
PMID:20659957
PMID:20952381
PMID:21636302
PMID:21646330
PMID:22042570
PMID:22857269
PMID:23250881
PMID:23401657
PMID:23757202
PMID:23891399
PMID:24907432
PMID:25012220
PMID:25564500
PMID:25641387
PMID:28812649
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193667170_193667173del , CM000665.2:g.193667170_193667173del | GRCh38 |
| NC_000003.11:g.193384959_193384962del , CM000665.1:g.193384959_193384962del | GRCh37 |
| NC_000003.10:g.194867653_194867656del | NCBI36 |
| NG_011605.1:g.79027_79030del , LRG_337:g.79027_79030del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361510.8:c.2873_2876del | ||
| ENST00000361828.7:c.2708_2711del | ||
| ENST00000361908.8:c.2819_2822del | ||
| ENST00000392436.7:c.2708_2711del | ||
| ENST00000392437.6:c.2762_2765del | ||
| ENST00000642289.1:c.2647_2650del | ||
| ENST00000642445.1:c.2708_2711del | ||
| ENST00000642593.1:c.*933_*936del | ||
| ENST00000643329.1:c.2390_2393del | ||
| ENST00000643737.1:c.*2789_*2792del | ||
| ENST00000644595.1:c.2708_2711del | ||
| ENST00000644629.1:c.2295_2298del | ||
| ENST00000644841.1:c.*1192_*1195del | ||
| ENST00000644959.1:c.2702_2705del | ||
| ENST00000645553.1:c.2723_2726del | ||
| ENST00000646085.1:c.*2186_*2189del | ||
| ENST00000646277.1:c.*1309_*1312del | ||
| ENST00000646544.1:c.1696_1699del | ||
| ENST00000646699.1:c.2647_2650del | ||
| ENST00000646793.1:c.2600_2603del | ||
| ENST00000361150.6:c.2711_2714del | ||
| ENST00000361510.6:c.2873_2876del | ||
| ENST00000361715.6:c.2765_2768del | ||
| ENST00000361828.6:c.2762_2765del | ||
| ENST00000361908.7:c.2819_2822del | ||
| ENST00000392438.7:c.2708_2711del | ||
| ENST00000445863.1:c.284_287del | ||
| NM_015560.2:c.2708_2711del , LRG_337t1:c.2708_2711del | ||
| NM_130831.2:c.2600_2603del | ||
| NM_130832.2:c.2654_2657del | ||
| NM_130833.2:c.2711_2714del | ||
| NM_130834.2:c.2762_2765del | ||
| NM_130835.2:c.2765_2768del | ||
| NM_130836.2:c.2819_2822del | ||
| NM_130837.2:c.2873_2876del , LRG_337t2:c.2873_2876del | ||
| XM_011512863.1:c.2873_2876del | ||
| XM_011512864.1:c.2819_2822del | ||
| XM_011512865.1:c.2762_2765del | ||
| XM_011512866.1:c.2711_2714del | ||
| XM_011512867.1:c.2708_2711del | ||
| XM_011512868.1:c.2600_2603del | ||
| XR_924835.1:n.582+1749_582+1752del | ||
| NM_001354663.1:c.2339_2342del | ||
| NM_001354664.1:c.2336_2339del | ||
| XR_001740158.2:n.3127_3130del | ||
| XR_001740159.2:n.2962_2965del | ||
| XR_001741072.1:n.600+1749_600+1752del | ||
| XR_001741074.1:n.475+3637_475+3640del | ||
| XR_924835.2:n.600+1749_600+1752del | ||
| NM_001354663.2:c.2339_2342del | ||
| NM_001354664.2:c.2336_2339del | ||
| NM_130831.3:c.2600_2603del | ||
| NM_130832.3:c.2654_2657del | ||
| NM_130834.3:c.2762_2765del | ||
| NM_130836.3:c.2819_2822del | ||
| NM_015560.3:c.2708_2711del | ||
| NM_130833.3:c.2711_2714del | ||
| NM_130835.3:c.2765_2768del | ||
| NM_130837.3:c.2873_2876del |