gnomAD v4:
Joint Max Group AF
0.00005136 (SAS)
Exomes Max Group AF
0.00005395 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219213467_219213468del , CM000664.2:g.219213467_219213468del | GRCh38 |
| NC_000002.11:g.220078189_220078190del , CM000664.1:g.220078189_220078190del | GRCh37 |
| NC_000002.10:g.219786433_219786434del | NCBI36 |
| NG_032110.1:g.10523_10524del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265316.9:c.1690_1691del (ABCB6) MANE Select | ENSP00000265316.3:p.Met564ValfsTer2 | |
| ENST00000295750.5:c.1552_1553del (ABCB6) | ENSP00000295750.5:p.Met518ValfsTer2 | |
| ENST00000265316.7:c.1690_1691del (ABCB6) | ENSP00000265316.3:p.Met564ValfsTer2 | |
| ENST00000295750.4:c.1233_1234del (ABCB6) | ||
| ENST00000446716.5:c.4415_4416del (ATG9A) | ||
| ENST00000448398.5:c.766_767del (ABCB6) | ||
| ENST00000497882.5:n.2003_2004del (ABCB6) | ||
| NM_005689.2:c.1690_1691del (ABCB6) | NP_005680.1:p.Met564ValfsTer2 | |
| NM_001349828.1:c.1552_1553del (ABCB6) | NP_001336757.1:p.Met518ValfsTer2 | |
| NM_005689.3:c.1690_1691del (ABCB6) | NP_005680.1:p.Met564ValfsTer2 | |
| NM_005689.4:c.1690_1691del (ABCB6) MANE Select | NP_005680.1:p.Met564ValfsTer2 | |
| NM_001349828.2:c.1552_1553del (ABCB6) | NP_001336757.1:p.Met518ValfsTer2 |