Linked Data
gnomAD v4:
11-5226898-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226899_5226901del , CM000673.2:g.5226899_5226901del | GRCh38 |
| NC_000011.9:g.5248129_5248131del , CM000673.1:g.5248129_5248131del | GRCh37 |
| NC_000011.8:g.5204705_5204707del | NCBI36 |
| NG_000007.3:g.70715_70717del | |
| NG_059281.1:g.5171_5173del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.92+29_92+31del | ENSP00000494175.1:n.92+29_92+31del | |
| ENST00000335295.4:c.92+29_92+31del MANE Select | ENSP00000333994.3:n.92+29_92+31del | |
| ENST00000380315.2:c.92+29_92+31del | ENSP00000369671.2:n.92+29_92+31del | |
| ENST00000485743.1:n.143+29_143+31del | ||
| ENST00000633227.1:c.76+45_76+47del | ENSP00000488004.1:n.76+45_76+47del | |
| NM_000518.4:c.92+29_92+31del | NP_000509.1:n.92+29_92+31del | |
| NM_000518.5:c.92+29_92+31del MANE Select | NP_000509.1:n.92+29_92+31del |