This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
dbSNP:
gnomAD v4:
Joint Max Group AF
0.00011231 (SAS)
Exomes Max Group AF
0.00012386 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290822_24290825del , CM000668.2:g.24290822_24290825del | GRCh38 |
| NC_000006.11:g.24291050_24291053del , CM000668.1:g.24291050_24291053del | GRCh37 |
| NC_000006.10:g.24399029_24399032del | NCBI36 |
| NG_012829.1:g.72231_72234del | |
| NG_012829.2:g.97471_97474del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.704+110_704+113del MANE Select | ENSP00000367715.3:n.704+110_704+113del | |
| ENST00000378454.7:c.704+110_704+113del | ENSP00000367715.3:n.704+110_704+113del | |
| NM_001195610.1:c.704+110_704+113del | NP_001182539.1:n.704+110_704+113del | |
| NM_016356.4:c.704+110_704+113del | NP_057440.2:n.704+110_704+113del | |
| NM_016356.5:c.704+110_704+113del MANE Select | NP_057440.2:n.704+110_704+113del | |
| NM_001195610.2:c.704+110_704+113del | NP_001182539.1:n.704+110_704+113del |