Linked Data
dbSNP Id:
rs1749015914
gnomAD v3:
5-60904677-TATATATAA-T
gnomAD v4:
5-60904677-TATATATAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60904679_60904686del , CM000667.2:g.60904679_60904686del | GRCh38 |
| NC_000005.9:g.60200506_60200513del , CM000667.1:g.60200506_60200513del | GRCh37 |
| NC_000005.8:g.60236263_60236270del | NCBI36 |
| NG_009289.1:g.45394_45401del , LRG_466:g.45394_45401del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439176.6:c.481+107_481+114del | ENSP00000408344.2:n.481+107_481+114del | |
| ENST00000647431.2:c.582+107_582+114del | ENSP00000494726.2:n.582+107_582+114del | |
| ENST00000647486.2:c.481+107_481+114del | ENSP00000494466.2:n.481+107_481+114del | |
| ENST00000675042.2:c.307+107_307+114del | ENSP00000502082.2:n.307+107_307+114del | |
| ENST00000675452.2:c.*446+107_*446+114del | ENSP00000506954.1:n.*446+107_*446+114del | |
| ENST00000682217.1:c.481+107_481+114del | ENSP00000507570.1:n.481+107_481+114del | |
| ENST00000682246.1:n.537+107_537+114del | ||
| ENST00000682375.1:c.*311+107_*311+114del | ENSP00000507551.1:n.*311+107_*311+114del | |
| ENST00000683052.1:c.283+107_283+114del | ENSP00000507072.1:n.283+107_283+114del | |
| ENST00000683199.1:n.503+107_503+114del | ||
| ENST00000683216.1:n.750+103_750+110del | ||
| ENST00000683460.1:c.*311+107_*311+114del | ENSP00000507820.1:n.*311+107_*311+114del | |
| ENST00000684394.1:n.536+107_536+114del | ||
| ENST00000684453.1:n.531+107_531+114del | ||
| ENST00000684621.1:n.537+107_537+114del | ||
| ENST00000265038.10:c.481+107_481+114del | ENSP00000265038.6:n.481+107_481+114del | |
| ENST00000497892.6:c.*279+107_*279+114del | ENSP00000501805.1:n.*279+107_*279+114del | |
| ENST00000643034.1:c.*373+107_*373+114del | ENSP00000496080.1:n.*373+107_*373+114del | |
| ENST00000643708.1:c.*311+107_*311+114del | ENSP00000494199.1:n.*311+107_*311+114del | |
| ENST00000647431.1:c.533+107_533+114del | ||
| ENST00000647486.1:c.432+107_432+114del | ||
| ENST00000675042.1:c.307+107_307+114del | ENSP00000502082.1:n.307+107_307+114del | |
| ENST00000675229.1:c.481+107_481+114del | ENSP00000502154.1:n.481+107_481+114del | |
| ENST00000675378.1:c.481+107_481+114del | ENSP00000502535.1:n.481+107_481+114del | |
| ENST00000675452.1:n.730+107_730+114del | ||
| ENST00000675920.1:n.1089+107_1089+114del | ||
| ENST00000676185.1:c.481+107_481+114del MANE Select | ENSP00000501614.1:n.481+107_481+114del | |
| ENST00000265038.9:c.481+107_481+114del | ENSP00000265038.5:n.481+107_481+114del | |
| ENST00000381118.7:c.*525+107_*525+114del | ENSP00000370510.3:n.*525+107_*525+114del | |
| ENST00000439176.5:c.307+107_307+114del | ENSP00000408344.1:n.307+107_307+114del | |
| ENST00000462279.5:n.326+107_326+114del | ||
| ENST00000484330.5:n.227-2177_227-2170del | ||
| ENST00000495985.5:n.258+103_258+110del | ||
| ENST00000497892.5:n.524+107_524+114del | ||
| NM_000082.3:c.481+107_481+114del , LRG_466t1:c.481+107_481+114del | NP_000073.1:n.481+107_481+114del | |
| NM_001007233.2:c.307+107_307+114del | NP_001007234.1:n.307+107_307+114del | |
| NM_001007234.2:c.481+107_481+114del | NP_001007235.1:n.481+107_481+114del | |
| NM_001290285.1:c.23-969_23-962del | NP_001277214.1:n.23-969_23-962del | |
| NM_001007234.3:c.481+107_481+114del | NP_001007235.1:n.481+107_481+114del | |
| NM_000082.4:c.481+107_481+114del MANE Select | NP_000073.1:n.481+107_481+114del | |
| NM_001007233.3:c.307+107_307+114del | NP_001007234.1:n.307+107_307+114del | |
| NM_001290285.2:c.23-969_23-962del | NP_001277214.1:n.23-969_23-962del |