Linked Data
dbSNP Id:
rs752212765
ExAC:
7:141349066 AAAG / A
gnomAD v2:
7-141349066-AAAG-A
gnomAD v4:
7-141649266-AAAG-A
COSMIC:
COSM6048324
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141649271_141649273del , CM000669.2:g.141649271_141649273del | GRCh38 |
| NC_000007.13:g.141349071_141349073del , CM000669.1:g.141349071_141349073del | GRCh37 |
| NC_000007.12:g.140995540_140995542del | NCBI36 |
| NG_032079.1:g.102994_102996del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647568.1:c.*947_*949del | ENSP00000497039.1:n.*947_*949del | |
| ENST00000648068.1:c.984_986del | ENSP00000498112.1:p.Glu328del | |
| ENST00000648395.1:c.708_710del | ENSP00000497666.1:p.Glu236del | |
| ENST00000648489.1:n.1015_1017del | ||
| ENST00000649014.1:c.*259_*261del | ENSP00000497984.1:n.*259_*261del | |
| ENST00000649286.2:c.984_986del MANE Select | ENSP00000497280.1:p.Glu328del | |
| ENST00000649365.1:c.*992_*994del | ENSP00000496835.1:n.*992_*994del | |
| ENST00000649790.1:c.*420_*422del | ENSP00000498193.1:n.*420_*422del | |
| ENST00000649914.1:c.972_974del | ENSP00000497848.1:p.Glu324del | |
| ENST00000650006.1:c.984_986del | ENSP00000497457.1:p.Glu328del | |
| ENST00000650365.1:c.*869_*871del | ENSP00000497358.1:n.*869_*871del | |
| ENST00000650547.1:c.984_986del | ENSP00000496789.1:p.Glu328del | |
| ENST00000355413.8:c.984_986del | ENSP00000347581.4:p.Glu328del | |
| ENST00000473247.5:c.900_902del | ENSP00000420776.1:p.Glu300del | |
| ENST00000494053.1:n.141_143del | ||
| ENST00000494688.1:c.*89_*91del | ENSP00000418101.1:n.*89_*91del | |
| ENST00000629555.2:c.*89_*91del | ENSP00000487274.1:n.*89_*91del | |
| NM_018238.3:c.984_986del | NP_060708.1:p.Glu328del | |
| XM_005250023.3:c.984_986del | XP_005250080.1:p.Glu328del | |
| XM_011516397.1:c.984_986del | XP_011514699.1:p.Glu328del | |
| NM_001364948.1:c.984_986del | NP_001351877.1:p.Glu328del | |
| NM_018238.4:c.984_986del MANE Select | NP_060708.1:p.Glu328del | |
| XM_011516397.3:c.984_986del | XP_011514699.1:p.Glu328del | |
| XM_024446835.1:c.984_986del | XP_024302603.1:p.Glu328del | |
| NM_001364948.2:c.984_986del | NP_001351877.1:p.Glu328del | |
| NM_001364948.3:c.984_986del | NP_001351877.1:p.Glu328del |