gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016251 (AFR)
Genomes Max Group AF
0.00019113 (AFR)
Exomes Max Group AF
0.00003809 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97854431_97854451del , CM000671.2:g.97854431_97854451del | GRCh38 |
| NC_000009.11:g.100616713_100616733del , CM000671.1:g.100616713_100616733del | GRCh37 |
| NC_000009.10:g.99656534_99656554del | NCBI36 |
| NG_011979.1:g.6177_6197del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375123.5:c.517_537del MANE Select | ENSP00000364265.3:p.Ala173_Ala179del | |
| ENST00000375123.4:c.517_537del | ENSP00000364265.3:p.Ala173_Ala179del | |
| NM_004473.3:c.517_537del | NP_004464.2:p.Ala173_Ala179del | |
| NM_004473.4:c.517_537del MANE Select | NP_004464.2:p.Ala173_Ala179del |