gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219420116del , CM000664.2:g.219420116del | GRCh38 |
| NC_000002.11:g.220284838del , CM000664.1:g.220284838del | GRCh37 |
| NC_000002.10:g.219993082del | NCBI36 |
| NG_008043.1:g.6740del , LRG_380:g.6740del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.74del | ||
| ENST00000373960.4:c.600del MANE Select | ENSP00000363071.3:p.Lys201ArgfsTer20 | |
| ENST00000373960.3:c.600del | ENSP00000363071.3:p.Lys201ArgfsTer20 | |
| ENST00000477226.5:n.72del | ||
| NM_001927.3:c.600del , LRG_380t1:c.600del | NP_001918.3:p.Lys201ArgfsTer20 | |
| NM_001927.4:c.600del MANE Select | NP_001918.3:p.Lys201ArgfsTer20 | |
| NM_001382708.1:c.600del | NP_001369637.1:p.Lys201ArgfsTer19 | |
| NM_001382709.1:c.600del | NP_001369638.1:p.Lys201ArgfsTer20 | |
| NM_001382710.1:c.600del | NP_001369639.1:p.Lys201ArgfsTer20 | |
| NM_001382711.1:c.600del | NP_001369640.1:p.Lys201ArgfsTer20 | |
| NM_001382712.1:c.600del | NP_001369641.1:p.Lys201ArgfsTer20 | |
| NM_001382713.1:c.496-409del | NP_001369642.1:n.496-409del |