Linked Data
ClinVar Variation Id:
284187
dbSNP Id:
rs200535694
ExAC:
6:110113763 CTT / C
gnomAD v2:
6-110113763-CTT-C
gnomAD v3:
6-109792560-CTT-C
gnomAD v4:
6-109792560-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109792571_109792572del , CM000668.2:g.109792571_109792572del | GRCh38 |
| NC_000006.11:g.110113774_110113775del , CM000668.1:g.110113774_110113775del | GRCh37 |
| NC_000006.10:g.110220467_110220468del | NCBI36 |
| NG_007977.1:g.106351_106352del , LRG_241:g.106351_106352del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000230124.8:c.2377-11_2377-10del MANE Select | ENSP00000230124.4:n.2377-11_2377-10del | |
| ENST00000415980.2:c.883-11_883-10del | ENSP00000405660.2:n.883-11_883-10del | |
| ENST00000419951.2:n.725-11_725-10del | ||
| ENST00000674532.1:n.5573-11_5573-10del | ||
| ENST00000674557.1:c.*1670-11_*1670-10del | ENSP00000501608.1:n.*1670-11_*1670-10del | |
| ENST00000674569.1:c.*1496-11_*1496-10del | ENSP00000502769.1:n.*1496-11_*1496-10del | |
| ENST00000674571.1:c.*1496-11_*1496-10del | ENSP00000501633.1:n.*1496-11_*1496-10del | |
| ENST00000674575.1:c.*1496-11_*1496-10del | ENSP00000502276.1:n.*1496-11_*1496-10del | |
| ENST00000674641.1:c.2032-11_2032-10del | ENSP00000501609.1:n.2032-11_2032-10del | |
| ENST00000674644.1:c.1447-11_1447-10del | ENSP00000502201.1:n.1447-11_1447-10del | |
| ENST00000674649.1:c.*2070-11_*2070-10del | ENSP00000501669.1:n.*2070-11_*2070-10del | |
| ENST00000674657.1:c.*1809-11_*1809-10del | ENSP00000502314.1:n.*1809-11_*1809-10del | |
| ENST00000674744.1:c.2371-11_2371-10del | ENSP00000501661.1:n.2371-11_2371-10del | |
| ENST00000674778.1:c.*1595-11_*1595-10del | ENSP00000502742.1:n.*1595-11_*1595-10del | |
| ENST00000674783.1:c.*1292-11_*1292-10del | ENSP00000502755.1:n.*1292-11_*1292-10del | |
| ENST00000674884.1:c.2395-11_2395-10del | ENSP00000502668.1:n.2395-11_2395-10del | |
| ENST00000674930.1:c.*1502-11_*1502-10del | ENSP00000502657.1:n.*1502-11_*1502-10del | |
| ENST00000674933.1:c.2146-11_2146-10del | ENSP00000502376.1:n.2146-11_2146-10del | |
| ENST00000674956.1:c.*1591-11_*1591-10del | ENSP00000501904.1:n.*1591-11_*1591-10del | |
| ENST00000675004.1:c.*2329-11_*2329-10del | ENSP00000501868.1:n.*2329-11_*2329-10del | |
| ENST00000675009.1:c.*1761-11_*1761-10del | ENSP00000502098.1:n.*1761-11_*1761-10del | |
| ENST00000675096.1:c.2170-11_2170-10del | ENSP00000502116.1:n.2170-11_2170-10del | |
| ENST00000675122.1:c.*484-11_*484-10del | ENSP00000501810.1:n.*484-11_*484-10del | |
| ENST00000675153.1:c.*1094-11_*1094-10del | ENSP00000501682.1:n.*1094-11_*1094-10del | |
| ENST00000675254.1:n.3825_3826del | ||
| ENST00000675272.1:n.6675-11_6675-10del | ||
| ENST00000675284.1:c.2377-11_2377-10del | ENSP00000502758.1:n.2377-11_2377-10del | |
| ENST00000675301.1:n.1034-11_1034-10del | ||
| ENST00000675311.1:c.*1579-11_*1579-10del | ENSP00000501961.1:n.*1579-11_*1579-10del | |
| ENST00000675426.1:c.*1445-11_*1445-10del | ENSP00000501819.1:n.*1445-11_*1445-10del | |
| ENST00000675523.1:c.2146-11_2146-10del | ENSP00000502384.1:n.2146-11_2146-10del | |
| ENST00000675552.1:c.*4640-11_*4640-10del | ENSP00000502197.1:n.*4640-11_*4640-10del | |
| ENST00000675726.1:c.2377-11_2377-10del | ENSP00000502452.1:n.2377-11_2377-10del | |
| ENST00000675772.1:c.2377-11_2377-10del | ENSP00000501678.1:n.2377-11_2377-10del | |
| ENST00000675831.1:c.1984-11_1984-10del | ENSP00000502382.1:n.1984-11_1984-10del | |
| ENST00000675849.1:n.1999-11_1999-10del | ||
| ENST00000675879.1:c.1222-11_1222-10del | ||
| ENST00000675887.1:c.*1980-11_*1980-10del | ENSP00000502123.1:n.*1980-11_*1980-10del | |
| ENST00000675954.1:n.3710-11_3710-10del | ||
| ENST00000675991.1:c.*4193_*4194del | ENSP00000502162.1:n.*4193_*4194del | |
| ENST00000675994.1:c.*1516-11_*1516-10del | ENSP00000502419.1:n.*1516-11_*1516-10del | |
| ENST00000676021.1:c.*955-11_*955-10del | ENSP00000502746.1:n.*955-11_*955-10del | |
| ENST00000676037.1:c.*304-11_*304-10del | ENSP00000502181.1:n.*304-11_*304-10del | |
| ENST00000676136.1:n.5024-11_5024-10del | ||
| ENST00000676246.1:n.267-11_267-10del | ||
| ENST00000676442.1:c.2248-11_2248-10del | ENSP00000502595.1:n.2248-11_2248-10del | |
| ENST00000230124.7:c.2377-11_2377-10del | ENSP00000230124.3:n.2377-11_2377-10del | |
| NM_014845.5:c.2377-11_2377-10del , LRG_241t1:c.2377-11_2377-10del | NP_055660.1:n.2377-11_2377-10del | |
| XM_011536281.1:c.2314-11_2314-10del | XP_011534583.1:n.2314-11_2314-10del | |
| XM_011536281.3:c.2314-11_2314-10del | XP_011534583.1:n.2314-11_2314-10del | |
| XM_017011592.1:c.1828-11_1828-10del | XP_016867081.1:n.1828-11_1828-10del | |
| XM_017011593.2:c.1447-11_1447-10del | XP_016867082.1:n.1447-11_1447-10del | |
| NM_014845.6:c.2377-11_2377-10del MANE Select | NP_055660.1:n.2377-11_2377-10del |