gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17088274del , CM000672.2:g.17088274del | GRCh38 |
| NC_000010.10:g.17130273del , CM000672.1:g.17130273del | GRCh37 |
| NC_000010.9:g.17170279del | NCBI36 |
| NG_008967.1:g.46545del , LRG_540:g.46545del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.1838del MANE Select | ENSP00000367064.4:p.Gly613GlufsTer9 | |
| ENST00000377833.8:c.1838del | ENSP00000367064.4:p.Gly613GlufsTer9 | |
| NM_001081.3:c.1838del , LRG_540t1:c.1838del | NP_001072.2:p.Gly613GlufsTer9 | |
| XM_011519708.1:c.1838del | XP_011518010.1:p.Gly613GlufsTer9 | |
| XM_011519708.2:c.1838del | XP_011518010.1:p.Gly613GlufsTer9 | |
| NM_001081.4:c.1838del MANE Select | NP_001072.2:p.Gly613GlufsTer9 |