Linked Data
gnomAD v4:
6-3225541-TAGGGCTCCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225542_3225550del , CM000668.2:g.3225542_3225550del | GRCh38 |
| NC_000006.11:g.3225776_3225784del , CM000668.1:g.3225776_3225784del | GRCh37 |
| NC_000006.10:g.3170775_3170783del | NCBI36 |
| NG_016715.1:g.7185_7193del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.539_547del MANE Select | ENSP00000259818.6:p.Val180_Tyr183delinsAsp | |
| ENST00000680070.1:n.1469_1477del | ||
| ENST00000681707.1:n.1366_1374del | ||
| ENST00000681757.1:n.844_852del | ||
| ENST00000259818.7:c.539_547del | ENSP00000259818.6:p.Val180_Tyr183delinsAsp | |
| ENST00000473006.1:n.656_664del | ||
| NM_178012.4:c.539_547del | NP_821080.1:p.Val180_Tyr183delinsAsp | |
| XM_011514571.1:c.323_331del | XP_011512873.1:p.Val108_Tyr111delinsAsp | |
| NM_178012.5:c.539_547del MANE Select | NP_821080.1:p.Val180_Tyr183delinsAsp |