gnomAD v4:
Joint Max Group AF
0.00003347 (AFR)
Exomes Max Group AF
0.00009446 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240594845_240594876del , CM000664.2:g.240594845_240594876del | GRCh38 |
| NC_000002.11:g.241534262_241534293del , CM000664.1:g.241534262_241534293del | GRCh37 |
| NC_000002.10:g.241182935_241182966del | NCBI36 |
| NG_011558.2:g.13130_13161del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391984.7:c.997+136_998-148del MANE Select | ENSP00000375844.2:n.997+136_998-148del | |
| ENST00000270361.15:c.*161+136_*162-148del | ENSP00000270361.11:n.*161+136_*162-148del | |
| ENST00000270364.11:c.273+5371_273+5402del | ENSP00000270364.7:n.273+5371_273+5402del | |
| ENST00000352879.8:c.142-3043_142-3012del | ENSP00000289381.6:n.142-3043_142-3012del | |
| ENST00000354082.8:c.997+136_998-148del | ENSP00000270362.6:n.997+136_998-148del | |
| ENST00000357048.8:c.997+136_998-148del | ENSP00000349556.4:n.997+136_998-148del | |
| ENST00000391983.7:c.997+136_998-148del | ENSP00000375843.3:n.997+136_998-148del | |
| ENST00000391984.6:c.997+136_998-148del | ENSP00000375844.2:n.997+136_998-148del | |
| ENST00000404753.7:c.997+136_998-148del | ENSP00000384422.3:n.997+136_998-148del | |
| ENST00000416591.5:c.997+136_998-148del | ENSP00000400144.1:n.997+136_998-148del | |
| ENST00000465943.1:n.469+136_470-148del | ||
| ENST00000494738.5:n.2576+136_2577-148del | ||
| NM_023083.3:c.997+136_998-148del | NP_075571.1:n.997+136_998-148del | |
| NM_023085.3:c.997+136_998-148del | NP_075573.2:n.997+136_998-148del | |
| NM_023083.4:c.997+136_998-148del MANE Select | NP_075571.2:n.997+136_998-148del | |
| NM_023085.4:c.997+136_998-148del | NP_075573.3:n.997+136_998-148del |