ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000369 (NFE)
Exomes Max Group AF
0.00000392 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46566393del , CM000680.2:g.46566393del | GRCh38 |
| NC_000018.9:g.44146356del , CM000680.1:g.44146356del | GRCh37 |
| NC_000018.8:g.42400354del | NCBI36 |
| NG_016646.1:g.95643del | |
| NG_016646.2:g.95643del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642948.1:c.2303del MANE Select | ENSP00000496347.1:p.Gly768AlafsTer? | |
| ENST00000335730.6:n.1616del | ||
| ENST00000441551.6:c.2303del | ENSP00000387621.2:p.Gly768AlafsTer? | |
| ENST00000536736.5:c.2303del | ENSP00000444586.1:p.Gly768AlafsTer? | |
| NM_144612.6:c.2303del | NP_653213.6:p.Gly768AlafsTer? | |
| XM_011525803.1:c.2303del | XP_011524105.1:p.Gly768AlafsTer? | |
| XM_011525804.1:c.464del | XP_011524106.1:p.Gly155AlafsTer? | |
| XM_011525804.2:c.464del | XP_011524106.1:p.Gly155AlafsTer? | |
| XM_017025548.1:c.2303del | XP_016881037.1:p.Gly768AlafsTer? | |
| XM_024451084.1:c.785del | XP_024306852.1:p.Gly262AlafsTer? | |
| NM_001384474.1:c.2303del MANE Select | NP_001371403.1:p.Gly768AlafsTer? | |
| NM_144612.7:c.2303del | NP_653213.6:p.Gly768AlafsTer? |