gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517440del , CM000669.2:g.92517440del | GRCh38 |
| NC_000007.13:g.92146754del , CM000669.1:g.92146754del | GRCh37 |
| NC_000007.12:g.91984690del | NCBI36 |
| NG_008341.1:g.16093del | |
| NG_008341.2:g.16093del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1076del MANE Select | ENSP00000248633.4:p.Lys359SerfsTer7 | |
| ENST00000248633.8:c.1076del | ENSP00000248633.4:p.Lys359SerfsTer7 | |
| ENST00000428214.5:c.1076del | ENSP00000394413.1:p.Lys359SerfsTer7 | |
| ENST00000438045.5:c.274-3472del | ENSP00000410438.1:n.274-3472del | |
| ENST00000484913.5:n.1115del | ||
| NM_000466.2:c.1076del | NP_000457.1:p.Lys359SerfsTer7 | |
| NM_001282677.1:c.1076del | NP_001269606.1:p.Lys359SerfsTer7 | |
| NM_001282678.1:c.452del | NP_001269607.1:p.Lys151SerfsTer7 | |
| XR_242246.3:n.1172del | ||
| XM_017012319.2:c.-591del | XP_016867808.1:n.-591del | |
| XR_001744808.2:n.186del | ||
| XR_242246.5:n.1123del | ||
| NM_000466.3:c.1076del MANE Select | NP_000457.1:p.Lys359SerfsTer7 | |
| NM_001282677.2:c.1076del | NP_001269606.1:p.Lys359SerfsTer7 | |
| NM_001282678.2:c.452del | NP_001269607.1:p.Lys151SerfsTer7 |