Linked Data
gnomAD v4:
10-119050463-CTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119050464_119050465del , CM000672.2:g.119050464_119050465del | GRCh38 |
| NC_000010.10:g.120809976_120809977del , CM000672.1:g.120809976_120809977del | GRCh37 |
| NC_000010.9:g.120799966_120799967del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369144.8:c.2473+56_2473+57del MANE Select | ENSP00000358140.3:n.2473+56_2473+57del | |
| ENST00000369144.7:c.2473+56_2473+57del | ENSP00000358140.3:n.2473+56_2473+57del | |
| ENST00000541549.2:c.2473+56_2473+57del | ENSP00000438178.2:n.2473+56_2473+57del | |
| NM_003750.2:c.2473+56_2473+57del | NP_003741.1:n.2473+56_2473+57del | |
| NM_003750.3:c.2473+56_2473+57del | NP_003741.1:n.2473+56_2473+57del | |
| NM_003750.4:c.2473+56_2473+57del MANE Select | NP_003741.1:n.2473+56_2473+57del |