gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29675423_29675426del , CM000668.2:g.29675423_29675426del | GRCh38 |
| NC_000006.11:g.29643200_29643203del , CM000668.1:g.29643200_29643203del | GRCh37 |
| NC_000006.10:g.29751179_29751182del | NCBI36 |
| NG_013045.1:g.6732_6735del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376883.2:c.315_318del MANE Select | ENSP00000366080.2:p.Arg105SerfsTer26 | |
| ENST00000488757.6:c.99_102del | ENSP00000418259.2:p.Arg33SerfsTer26 | |
| ENST00000376881.4:c.231_233+1del | ||
| ENST00000376883.1:c.255_258del | ENSP00000366080.1:p.Arg85SerfsTer26 | |
| ENST00000488757.5:c.315_318del | ENSP00000418259.1:p.Arg105SerfsTer26 | |
| NM_001109809.2:c.315_318del | NP_001103279.2:p.Arg105SerfsTer26 | |
| XM_006715087.2:c.99_102del | XP_006715150.1:p.Arg33SerfsTer26 | |
| XM_011514570.1:c.315_318del | XP_011512872.1:p.Arg105SerfsTer26 | |
| NM_001109809.3:c.315_318del | NP_001103279.2:p.Arg105SerfsTer26 | |
| NM_001366333.1:c.99_102del | NP_001353262.1:p.Arg33SerfsTer26 | |
| NM_001109809.4:c.315_318del | NP_001103279.2:p.Arg105SerfsTer26 | |
| NM_001366333.2:c.99_102del | NP_001353262.1:p.Arg33SerfsTer26 | |
| NM_001109809.5:c.315_318del MANE Select | NP_001103279.2:p.Arg105SerfsTer26 |