gnomAD v2:
gnomAD v3:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62639461_62639462del , CM000673.2:g.62639461_62639462del | GRCh38 |
| NC_000011.9:g.62406933_62406934del , CM000673.1:g.62406933_62406934del | GRCh37 |
| NC_000011.8:g.62163509_62163510del | NCBI36 |
| NG_053018.1:g.12268_12269del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356638.8:c.152_153del MANE Select | ENSP00000349053.3:p.Arg51LysfsTer21 | |
| ENST00000648273.1:c.-140_-139del | ENSP00000497655.1:n.-140_-139del | |
| ENST00000346178.8:c.152_153del | ENSP00000340466.4:p.Arg51LysfsTer21 | |
| ENST00000356638.7:c.152_153del | ENSP00000349053.3:p.Arg51LysfsTer21 | |
| ENST00000524437.5:n.13_14del | ||
| ENST00000525994.1:c.39-4459_39-4458del | ENSP00000434805.1:n.39-4459_39-4458del | |
| ENST00000526210.1:c.143+168_143+169del | ENSP00000433799.1:n.143+168_143+169del | |
| ENST00000526392.1:n.46-4459_46-4458del | ||
| ENST00000529737.5:c.148_149del | ENSP00000432593.1:p.Glu50SerfsTer? | |
| ENST00000532402.5:c.143+168_143+169del | ENSP00000432181.1:n.143+168_143+169del | |
| ENST00000534419.1:n.307_308del | ||
| ENST00000534422.5:n.9_10del | ||
| ENST00000534613.5:c.143+168_143+169del | ENSP00000434921.1:n.143+168_143+169del | |
| ENST00000534779.5:c.39-4459_39-4458del | ENSP00000435306.1:n.39-4459_39-4458del | |
| ENST00000540933.5:c.-40+168_-40+169del | ENSP00000442962.1:n.-40+168_-40+169del | |
| NM_001278192.1:c.39-4459_39-4458del | NP_001265121.1:n.39-4459_39-4458del | |
| NM_001278193.1:c.39-4459_39-4458del | NP_001265122.1:n.39-4459_39-4458del | |
| NM_001278194.1:c.-40+168_-40+169del | NP_001265123.1:n.-40+168_-40+169del | |
| NM_198334.2:c.152_153del | NP_938148.1:p.Arg51LysfsTer21 | |
| NM_198335.3:c.152_153del | NP_938149.2:p.Arg51LysfsTer21 | |
| NM_001329222.1:c.-140_-139del | NP_001316151.1:n.-140_-139del | |
| NM_001329223.1:c.-140_-139del | NP_001316152.1:n.-140_-139del | |
| NM_001329224.1:c.-625_-624del | NP_001316153.1:n.-625_-624del | |
| NM_001329225.1:c.-625_-624del | NP_001316154.1:n.-625_-624del | |
| XM_017017412.1:c.-140_-139del | XP_016872901.1:n.-140_-139del | |
| NM_198334.3:c.152_153del MANE Select | NP_938148.1:p.Arg51LysfsTer21 | |
| NM_001278192.2:c.39-4459_39-4458del | NP_001265121.1:n.39-4459_39-4458del | |
| NM_001278193.2:c.39-4459_39-4458del | NP_001265122.1:n.39-4459_39-4458del | |
| NM_001329223.2:c.-140_-139del | NP_001316152.1:n.-140_-139del | |
| NM_001329225.2:c.-625_-624del | NP_001316154.1:n.-625_-624del | |
| NM_198335.4:c.152_153del | NP_938149.2:p.Arg51LysfsTer21 | |
| NM_001278194.2:c.-40+168_-40+169del | NP_001265123.1:n.-40+168_-40+169del | |
| NM_001329222.2:c.-140_-139del | NP_001316151.1:n.-140_-139del | |
| NM_001329224.2:c.-625_-624del | NP_001316153.1:n.-625_-624del |