gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001747 (AFR)
Exomes Max Group AF
0.00002377 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117627712del , CM000669.2:g.117627712del | GRCh38 |
| NC_000007.13:g.117267766del , CM000669.1:g.117267766del | GRCh37 |
| NC_000007.12:g.117055002del | NCBI36 |
| NG_016465.4:g.166929del , LRG_663:g.166929del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3517+142del | ENSP00000497673.2:n.3517+142del | |
| ENST00000647978.2:c.*3373del | ENSP00000497658.1:n.*3373del | |
| ENST00000649781.2:c.3476del | ENSP00000497203.1:p.Thr1159LysfsTer8 | |
| ENST00000685018.2:c.3659del | ENSP00000510194.2:p.Thr1220LysfsTer8 | |
| ENST00000687278.2:c.*312del | ENSP00000509593.2:n.*312del | |
| ENST00000699585.1:c.3517+142del | ENSP00000514456.1:n.3517+142del | |
| ENST00000699598.1:c.3659del | ENSP00000514467.1:p.Thr1220LysfsTer8 | |
| ENST00000699599.1:c.3659del | ENSP00000514468.1:p.Thr1220LysfsTer8 | |
| ENST00000699600.1:c.*320del | ENSP00000514469.1:n.*320del | |
| ENST00000699601.1:c.*2034del | ENSP00000514470.1:n.*2034del | |
| ENST00000699602.1:c.3653del | ENSP00000514471.1:p.Thr1218LysfsTer8 | |
| ENST00000699604.1:c.*3483del | ENSP00000514472.1:n.*3483del | |
| ENST00000699605.1:c.3233del | ENSP00000514473.1:p.Thr1078LysfsTer8 | |
| ENST00000685018.1:c.407del | ENSP00000510194.1:p.Thr136LysfsTer8 | |
| ENST00000687278.1:c.1446del | ENSP00000509593.1:n.1446del | |
| ENST00000689011.1:c.241del | ||
| ENST00000003084.11:c.3659del MANE Select | ENSP00000003084.6:p.Thr1220LysfsTer8 | |
| ENST00000647720.1:c.1167+142del | ||
| ENST00000648260.1:c.2441del | ENSP00000497957.1:p.Thr814LysfsTer8 | |
| ENST00000649406.1:c.3476del | ENSP00000497965.1:p.Thr1159LysfsTer8 | |
| ENST00000649781.1:c.3476del | ENSP00000497203.1:p.Thr1159LysfsTer8 | |
| ENST00000003084.10:c.3659del | ENSP00000003084.6:p.Thr1220LysfsTer8 | |
| ENST00000426809.5:c.3569del | ENSP00000389119.1:p.Thr1190LysfsTer8 | |
| ENST00000468795.1:c.484del | ||
| NM_000492.3:c.3659del , LRG_663t1:c.3659del | NP_000483.3:p.Thr1220LysfsTer8 | |
| XM_011515751.1:c.3749del | XP_011514053.1:p.Thr1250LysfsTer8 | |
| XM_011515752.1:c.3749del | XP_011514054.1:p.Thr1250LysfsTer8 | |
| XM_011515753.1:c.3416del | XP_011514055.1:p.Thr1139LysfsTer8 | |
| XM_011515754.1:c.3416del | XP_011514056.1:p.Thr1139LysfsTer8 | |
| NM_000492.4:c.3659del MANE Select | NP_000483.3:p.Thr1220LysfsTer8 |