Linked Data
ClinVar Variation Id:
1251906
ClinVar RCV Id:
RCV001650458
dbSNP Id:
rs869039109
gnomAD v2:
5-60200461-GTATATATATATATATA-G
gnomAD v3:
5-60904634-GTATATATATATATATA-G
gnomAD v4:
5-60904634-GTATATATATATATATA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60904669_60904684del , CM000667.2:g.60904669_60904684del | GRCh38 |
| NC_000005.9:g.60200496_60200511del , CM000667.1:g.60200496_60200511del | GRCh37 |
| NC_000005.8:g.60236253_60236268del | NCBI36 |
| NG_009289.1:g.45429_45444del , LRG_466:g.45429_45444del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439176.6:c.481+142_481+157del | ENSP00000408344.2:n.481+142_481+157del | |
| ENST00000647431.2:c.582+142_582+157del | ENSP00000494726.2:n.582+142_582+157del | |
| ENST00000647486.2:c.481+142_481+157del | ENSP00000494466.2:n.481+142_481+157del | |
| ENST00000675042.2:c.307+142_307+157del | ENSP00000502082.2:n.307+142_307+157del | |
| ENST00000675452.2:c.*446+142_*446+157del | ENSP00000506954.1:n.*446+142_*446+157del | |
| ENST00000682217.1:c.481+142_481+157del | ENSP00000507570.1:n.481+142_481+157del | |
| ENST00000682246.1:n.537+142_537+157del | ||
| ENST00000682375.1:c.*311+142_*311+157del | ENSP00000507551.1:n.*311+142_*311+157del | |
| ENST00000683052.1:c.283+142_283+157del | ENSP00000507072.1:n.283+142_283+157del | |
| ENST00000683199.1:n.503+142_503+157del | ||
| ENST00000683216.1:n.750+138_750+153del | ||
| ENST00000683460.1:c.*311+142_*311+157del | ENSP00000507820.1:n.*311+142_*311+157del | |
| ENST00000684394.1:n.536+142_536+157del | ||
| ENST00000684453.1:n.531+142_531+157del | ||
| ENST00000684621.1:n.537+142_537+157del | ||
| ENST00000265038.10:c.481+142_481+157del | ENSP00000265038.6:n.481+142_481+157del | |
| ENST00000497892.6:c.*279+142_*279+157del | ENSP00000501805.1:n.*279+142_*279+157del | |
| ENST00000643034.1:c.*373+142_*373+157del | ENSP00000496080.1:n.*373+142_*373+157del | |
| ENST00000643708.1:c.*311+142_*311+157del | ENSP00000494199.1:n.*311+142_*311+157del | |
| ENST00000647431.1:c.533+142_533+157del | ||
| ENST00000647486.1:c.432+142_432+157del | ||
| ENST00000675042.1:c.307+142_307+157del | ENSP00000502082.1:n.307+142_307+157del | |
| ENST00000675229.1:c.481+142_481+157del | ENSP00000502154.1:n.481+142_481+157del | |
| ENST00000675378.1:c.481+142_481+157del | ENSP00000502535.1:n.481+142_481+157del | |
| ENST00000675452.1:n.730+142_730+157del | ||
| ENST00000675920.1:n.1089+142_1089+157del | ||
| ENST00000676185.1:c.481+142_481+157del MANE Select | ENSP00000501614.1:n.481+142_481+157del | |
| ENST00000265038.9:c.481+142_481+157del | ENSP00000265038.5:n.481+142_481+157del | |
| ENST00000381118.7:c.*525+142_*525+157del | ENSP00000370510.3:n.*525+142_*525+157del | |
| ENST00000439176.5:c.307+142_307+157del | ENSP00000408344.1:n.307+142_307+157del | |
| ENST00000462279.5:n.326+142_326+157del | ||
| ENST00000484330.5:n.227-2142_227-2127del | ||
| ENST00000495985.5:n.258+138_258+153del | ||
| ENST00000497892.5:n.524+142_524+157del | ||
| NM_000082.3:c.481+142_481+157del , LRG_466t1:c.481+142_481+157del | NP_000073.1:n.481+142_481+157del | |
| NM_001007233.2:c.307+142_307+157del | NP_001007234.1:n.307+142_307+157del | |
| NM_001007234.2:c.481+142_481+157del | NP_001007235.1:n.481+142_481+157del | |
| NM_001290285.1:c.23-934_23-919del | NP_001277214.1:n.23-934_23-919del | |
| NM_001007234.3:c.481+142_481+157del | NP_001007235.1:n.481+142_481+157del | |
| NM_000082.4:c.481+142_481+157del MANE Select | NP_000073.1:n.481+142_481+157del | |
| NM_001007233.3:c.307+142_307+157del | NP_001007234.1:n.307+142_307+157del | |
| NM_001290285.2:c.23-934_23-919del | NP_001277214.1:n.23-934_23-919del |