Linked Data
dbSNP Id:
rs754946427
ExAC:
6:110113757 GTTC / G
gnomAD v2:
6-110113757-GTTC-G
gnomAD v3:
6-109792554-GTTC-G
gnomAD v4:
6-109792554-GTTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109792560_109792562del , CM000668.2:g.109792560_109792562del | GRCh38 |
| NC_000006.11:g.110113763_110113765del , CM000668.1:g.110113763_110113765del | GRCh37 |
| NC_000006.10:g.110220456_110220458del | NCBI36 |
| NG_007977.1:g.106340_106342del , LRG_241:g.106340_106342del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000230124.8:c.2377-22_2377-20del MANE Select | ENSP00000230124.4:n.2377-22_2377-20del | |
| ENST00000415980.2:c.883-22_883-20del | ENSP00000405660.2:n.883-22_883-20del | |
| ENST00000419951.2:n.725-22_725-20del | ||
| ENST00000674532.1:n.5573-22_5573-20del | ||
| ENST00000674557.1:c.*1670-22_*1670-20del | ENSP00000501608.1:n.*1670-22_*1670-20del | |
| ENST00000674569.1:c.*1496-22_*1496-20del | ENSP00000502769.1:n.*1496-22_*1496-20del | |
| ENST00000674571.1:c.*1496-22_*1496-20del | ENSP00000501633.1:n.*1496-22_*1496-20del | |
| ENST00000674575.1:c.*1496-22_*1496-20del | ENSP00000502276.1:n.*1496-22_*1496-20del | |
| ENST00000674641.1:c.2032-22_2032-20del | ENSP00000501609.1:n.2032-22_2032-20del | |
| ENST00000674644.1:c.1447-22_1447-20del | ENSP00000502201.1:n.1447-22_1447-20del | |
| ENST00000674649.1:c.*2070-22_*2070-20del | ENSP00000501669.1:n.*2070-22_*2070-20del | |
| ENST00000674657.1:c.*1809-22_*1809-20del | ENSP00000502314.1:n.*1809-22_*1809-20del | |
| ENST00000674744.1:c.2371-22_2371-20del | ENSP00000501661.1:n.2371-22_2371-20del | |
| ENST00000674778.1:c.*1595-22_*1595-20del | ENSP00000502742.1:n.*1595-22_*1595-20del | |
| ENST00000674783.1:c.*1292-22_*1292-20del | ENSP00000502755.1:n.*1292-22_*1292-20del | |
| ENST00000674884.1:c.2395-22_2395-20del | ENSP00000502668.1:n.2395-22_2395-20del | |
| ENST00000674930.1:c.*1502-22_*1502-20del | ENSP00000502657.1:n.*1502-22_*1502-20del | |
| ENST00000674933.1:c.2146-22_2146-20del | ENSP00000502376.1:n.2146-22_2146-20del | |
| ENST00000674956.1:c.*1591-22_*1591-20del | ENSP00000501904.1:n.*1591-22_*1591-20del | |
| ENST00000675004.1:c.*2329-22_*2329-20del | ENSP00000501868.1:n.*2329-22_*2329-20del | |
| ENST00000675009.1:c.*1761-22_*1761-20del | ENSP00000502098.1:n.*1761-22_*1761-20del | |
| ENST00000675096.1:c.2170-22_2170-20del | ENSP00000502116.1:n.2170-22_2170-20del | |
| ENST00000675122.1:c.*484-22_*484-20del | ENSP00000501810.1:n.*484-22_*484-20del | |
| ENST00000675153.1:c.*1094-22_*1094-20del | ENSP00000501682.1:n.*1094-22_*1094-20del | |
| ENST00000675254.1:n.3814_3816del | ||
| ENST00000675272.1:n.6675-22_6675-20del | ||
| ENST00000675284.1:c.2377-22_2377-20del | ENSP00000502758.1:n.2377-22_2377-20del | |
| ENST00000675301.1:n.1034-22_1034-20del | ||
| ENST00000675311.1:c.*1579-22_*1579-20del | ENSP00000501961.1:n.*1579-22_*1579-20del | |
| ENST00000675426.1:c.*1445-22_*1445-20del | ENSP00000501819.1:n.*1445-22_*1445-20del | |
| ENST00000675523.1:c.2146-22_2146-20del | ENSP00000502384.1:n.2146-22_2146-20del | |
| ENST00000675552.1:c.*4640-22_*4640-20del | ENSP00000502197.1:n.*4640-22_*4640-20del | |
| ENST00000675726.1:c.2377-22_2377-20del | ENSP00000502452.1:n.2377-22_2377-20del | |
| ENST00000675772.1:c.2377-22_2377-20del | ENSP00000501678.1:n.2377-22_2377-20del | |
| ENST00000675831.1:c.1984-22_1984-20del | ENSP00000502382.1:n.1984-22_1984-20del | |
| ENST00000675849.1:n.1999-22_1999-20del | ||
| ENST00000675879.1:c.1222-22_1222-20del | ||
| ENST00000675887.1:c.*1980-22_*1980-20del | ENSP00000502123.1:n.*1980-22_*1980-20del | |
| ENST00000675954.1:n.3710-22_3710-20del | ||
| ENST00000675991.1:c.*4182_*4184del | ENSP00000502162.1:n.*4182_*4184del | |
| ENST00000675994.1:c.*1516-22_*1516-20del | ENSP00000502419.1:n.*1516-22_*1516-20del | |
| ENST00000676021.1:c.*955-22_*955-20del | ENSP00000502746.1:n.*955-22_*955-20del | |
| ENST00000676037.1:c.*304-22_*304-20del | ENSP00000502181.1:n.*304-22_*304-20del | |
| ENST00000676136.1:n.5024-22_5024-20del | ||
| ENST00000676246.1:n.267-22_267-20del | ||
| ENST00000676442.1:c.2248-22_2248-20del | ENSP00000502595.1:n.2248-22_2248-20del | |
| ENST00000230124.7:c.2377-22_2377-20del | ENSP00000230124.3:n.2377-22_2377-20del | |
| NM_014845.5:c.2377-22_2377-20del , LRG_241t1:c.2377-22_2377-20del | NP_055660.1:n.2377-22_2377-20del | |
| XM_011536281.1:c.2314-22_2314-20del | XP_011534583.1:n.2314-22_2314-20del | |
| XM_011536281.3:c.2314-22_2314-20del | XP_011534583.1:n.2314-22_2314-20del | |
| XM_017011592.1:c.1828-22_1828-20del | XP_016867081.1:n.1828-22_1828-20del | |
| XM_017011593.2:c.1447-22_1447-20del | XP_016867082.1:n.1447-22_1447-20del | |
| NM_014845.6:c.2377-22_2377-20del MANE Select | NP_055660.1:n.2377-22_2377-20del |