Linked Data
gnomAD v4:
11-70206167-TGTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70206169_70206171del , CM000673.2:g.70206169_70206171del | GRCh38 |
| NC_000011.9:g.70052275_70052277del , CM000673.1:g.70052275_70052277del | GRCh37 |
| NC_000011.8:g.69729923_69729925del | NCBI36 |
| NG_027966.1:g.8007_8009del , LRG_228:g.8007_8009del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301838.5:c.323_325del MANE Select | ENSP00000301838.5:p.Val108del | |
| ENST00000301838.4:c.323_325del | ENSP00000301838.4:p.Val108del | |
| NM_003824.3:c.323_325del , LRG_228t1:c.323_325del | NP_003815.1:p.Val108del | |
| NM_003824.4:c.323_325del MANE Select | NP_003815.1:p.Val108del |