gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356725_31356729del , CM000668.2:g.31356725_31356729del | GRCh38 |
| NC_000006.11:g.31324502_31324506del , CM000668.1:g.31324502_31324506del | GRCh37 |
| NC_000006.10:g.31432481_31432485del | NCBI36 |
| NG_023187.1:g.5484_5488del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1775_1779del | ||
| ENST00000481849.6:n.1775_1779del | ||
| ENST00000497377.6:n.1775_1779del | ||
| ENST00000640094.2:c.302_306del | ENSP00000491275.2:p.Ser101ThrfsTer? | |
| ENST00000696558.1:c.302_306del | ENSP00000512716.1:p.Ser101ThrfsTer? | |
| ENST00000696559.1:c.302_306del | ENSP00000512717.1:p.Ser101ThrfsTer? | |
| ENST00000696560.1:c.302_306del | ENSP00000512718.1:p.Ser101ThrfsTer? | |
| ENST00000696561.1:c.302_306del | ENSP00000512719.1:p.Ser101ThrfsTer? | |
| ENST00000696562.1:c.302_306del | ENSP00000512720.1:p.Ser101ThrfsTer? | |
| ENST00000412585.7:c.302_306del MANE Select | ENSP00000399168.2:p.Ser101ThrfsTer? | |
| ENST00000412585.6:c.302_306del | ENSP00000399168.2:p.Ser101ThrfsTer? | |
| ENST00000434333.1:c.335_339del | ENSP00000405931.1:p.Ser112ThrfsTer? | |
| ENST00000474381.1:n.177_181del | ||
| ENST00000498007.1:n.323_327del | ||
| ENST00000603274.1:n.79_83del | ||
| NM_005514.6:c.302_306del | NP_005505.2:p.Ser101ThrfsTer? | |
| XM_011514556.1:c.335_339del | XP_011512858.1:p.Ser112ThrfsTer? | |
| XM_011514557.1:c.302_306del | XP_011512859.1:p.Ser101ThrfsTer? | |
| XR_926175.1:n.312_316del | ||
| NM_005514.7:c.302_306del | NP_005505.2:p.Ser101ThrfsTer? | |
| NM_005514.8:c.302_306del MANE Select | NP_005505.2:p.Ser101ThrfsTer? |