Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667097_31667163del , CM000683.2:g.31667097_31667163del | GRCh38 |
| NC_000021.8:g.33039410_33039476del , CM000683.1:g.33039410_33039476del | GRCh37 |
| NC_000021.7:g.31961281_31961347del | NCBI36 |
| NG_008689.1:g.12476_12542del , LRG_652:g.12476_12542del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.240-161_240-95del MANE Select | ENSP00000270142.7:n.240-161_240-95del | |
| ENST00000270142.10:c.240-161_240-95del | ENSP00000270142.6:n.240-161_240-95del | |
| ENST00000389995.4:c.183-161_183-95del | ENSP00000374645.4:n.183-161_183-95del | |
| ENST00000470944.1:n.1168-161_1168-95del | ||
| ENST00000476106.5:n.503-161_503-95del | ||
| NM_000454.4:c.240-161_240-95del , LRG_652t1:c.240-161_240-95del | NP_000445.1:n.240-161_240-95del | |
| NM_000454.5:c.240-161_240-95del MANE Select | NP_000445.1:n.240-161_240-95del |