Linked Data
ClinVar Variation Id:
1173983
ClinVar RCV Id:
RCV001527438
dbSNP Id:
rs2134013240
gnomAD v4:
11-6392130-GCCTGCCGAAGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6392136_6392146del , CM000673.2:g.6392136_6392146del | GRCh38 |
| NC_000011.9:g.6413366_6413376del , CM000673.1:g.6413366_6413376del | GRCh37 |
| NC_000011.8:g.6369942_6369952del | NCBI36 |
| NG_011780.1:g.6712_6722del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1071_1081del MANE Select | ENSP00000340409.4:p.Glu358HisfsTer29 | |
| ENST00000342245.8:c.1071_1081del | ENSP00000340409.4:p.Glu358HisfsTer29 | |
| ENST00000526280.1:c.260_270del | ||
| ENST00000527275.5:c.1068_1078del | ENSP00000435350.1:p.Glu357HisfsTer29 | |
| ENST00000531303.5:c.438+633_438+643del | ENSP00000432625.1:n.438+633_438+643del | |
| ENST00000533123.5:c.1071_1081del | ENSP00000435950.1:p.Glu358HisfsTer? | |
| ENST00000534405.5:c.1071_1081del | ENSP00000434353.1:p.Glu358HisfsTer? | |
| NM_000543.4:c.1071_1081del | NP_000534.3:p.Glu358HisfsTer29 | |
| NM_001007593.2:c.1068_1078del | NP_001007594.2:p.Glu357HisfsTer29 | |
| XM_005253075.3:c.1071_1081del | XP_005253132.1:p.Glu358HisfsTer29 | |
| XM_011520303.1:c.1071_1081del | XP_011518605.1:p.Glu358HisfsTer? | |
| XM_011520304.1:c.1071_1081del | XP_011518606.1:p.Glu358HisfsTer? | |
| XR_930886.1:n.1369_1379del | ||
| NM_001318087.1:c.1071_1081del | NP_001305016.1:p.Glu358HisfsTer29 | |
| NM_001318088.1:c.110_120del | NP_001305017.1:p.Pro37ArgfsTer? | |
| NM_001365135.1:c.1071_1081del | NP_001352064.1:p.Glu358HisfsTer? | |
| NR_027400.2:n.1256_1266del | ||
| NR_134502.1:n.623+633_623+643del | ||
| XM_011520304.2:c.1071_1081del | XP_011518606.1:p.Glu358HisfsTer? | |
| XR_001747940.2:n.1196_1206del | ||
| XR_002957158.1:n.1196_1206del | ||
| NM_000543.5:c.1071_1081del MANE Select | NP_000534.3:p.Glu358HisfsTer29 | |
| NM_001007593.3:c.1068_1078del | NP_001007594.2:p.Glu357HisfsTer29 | |
| NM_001318087.2:c.1071_1081del | NP_001305016.1:p.Glu358HisfsTer29 | |
| NM_001318088.2:c.110_120del | NP_001305017.1:p.Pro37ArgfsTer? | |
| NM_001365135.2:c.1071_1081del | NP_001352064.1:p.Glu358HisfsTer? | |
| NR_027400.3:n.1196_1206del | ||
| NR_134502.2:n.563+633_563+643del |