Linked Data
ClinVar Variation Id:
214190
ClinVar RCV Id:
RCV000198764
dbSNP Id:
rs863223925
gnomAD v4:
10-100989860-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100989862_100989863del , CM000672.2:g.100989862_100989863del | GRCh38 |
| NC_000010.10:g.102749619_102749620del , CM000672.1:g.102749619_102749620del | GRCh37 |
| NC_000010.9:g.102739609_102739610del | NCBI36 |
| NG_011646.1:g.2654_2655del | |
| NG_012624.1:g.7327_7328del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311916.8:c.1462_1463del MANE Select | ENSP00000309595.2:p.Phe488ProfsTer21 | |
| ENST00000370228.2:c.1462_1463del | ENSP00000359248.1:p.Phe488ProfsTer21 | |
| ENST00000643860.1:c.1462_1463del | ENSP00000494389.1:p.Phe488ProfsTer21 | |
| ENST00000646226.1:n.277_278del | ||
| ENST00000647109.1:c.121_122del | ||
| ENST00000650396.1:c.423_424del | ||
| ENST00000311916.6:c.1462_1463del | ENSP00000309595.2:p.Phe488ProfsTer21 | |
| ENST00000370228.1:c.1462_1463del | ENSP00000359248.1:p.Phe488ProfsTer21 | |
| ENST00000459764.1:n.305_306del | ||
| ENST00000473656.5:n.283_284del | ||
| ENST00000476766.5:n.348_349del | ||
| NM_001163812.1:c.1462_1463del | NP_001157284.1:p.Phe488ProfsTer21 | |
| NM_001163813.1:c.100_101del | NP_001157285.1:p.Phe34ProfsTer21 | |
| NM_001163814.1:c.100_101del | NP_001157286.1:p.Phe34ProfsTer21 | |
| NM_021830.4:c.1462_1463del | NP_068602.2:p.Phe488ProfsTer21 | |
| XM_011539974.1:c.100_101del | XP_011538276.1:p.Phe34ProfsTer21 | |
| XM_011539975.1:c.100_101del | XP_011538277.1:p.Phe34ProfsTer21 | |
| XR_945788.1:n.2233_2234del | ||
| XM_011539975.2:c.100_101del | XP_011538277.1:p.Phe34ProfsTer21 | |
| XM_017016437.1:c.100_101del | XP_016871926.1:p.Phe34ProfsTer21 | |
| XR_001747142.1:n.1636_1637del | ||
| XR_001747144.1:n.1574_1575del | ||
| XR_002956991.1:n.1574_1575del | ||
| XR_945788.2:n.1574_1575del | ||
| NM_021830.5:c.1462_1463del MANE Select | NP_068602.2:p.Phe488ProfsTer21 | |
| NM_001163812.2:c.1462_1463del | NP_001157284.1:p.Phe488ProfsTer21 | |
| NM_001163813.2:c.100_101del | NP_001157285.1:p.Phe34ProfsTer21 | |
| NM_001163814.2:c.100_101del | NP_001157286.1:p.Phe34ProfsTer21 | |
| NM_001368275.1:c.100_101del | NP_001355204.1:p.Phe34ProfsTer21 | |
| NR_160738.1:n.2130_2131del | ||
| NR_160739.1:n.290_291del | ||
| NR_160740.1:n.2068_2069del | ||
| NR_160741.1:n.2068_2069del | ||
| NR_160742.1:n.2068_2069del |