gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00005136 (SAS)
Exomes Max Group AF
0.00005395 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46705818_46705821dup , CM000665.2:g.46705818_46705821dup | GRCh38 |
| NC_000003.11:g.46747308_46747311dup , CM000665.1:g.46747308_46747311dup | GRCh37 |
| NC_000003.10:g.46722312_46722315dup | NCBI36 |
| NG_011628.1:g.9486_9489dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643606.3:c.122_125dup MANE Select | ENSP00000494576.2:p.Pro43AlafsTer? | |
| ENST00000644830.1:c.-38_-35dup | ENSP00000495111.1:n.-38_-35dup | |
| ENST00000651652.1:c.20_23dup | ENSP00000498953.1:p.Pro9AlafsTer? | |
| ENST00000326431.3:c.122_125dup | ENSP00000324775.3:p.Pro43AlafsTer? | |
| NM_147196.2:c.122_125dup | NP_671729.2:p.Pro43AlafsTer? | |
| XM_006713097.2:c.-38_-35dup | XP_006713160.1:n.-38_-35dup | |
| XM_011533574.1:c.-38_-35dup | XP_011531876.1:n.-38_-35dup | |
| XM_006713097.4:c.-38_-35dup | XP_006713160.1:n.-38_-35dup | |
| XM_024453446.1:c.-38_-35dup | XP_024309214.1:n.-38_-35dup | |
| NM_001370524.1:c.-38_-35dup | NP_001357453.1:n.-38_-35dup | |
| NM_001370525.1:c.-38_-35dup | NP_001357454.1:n.-38_-35dup | |
| NM_147196.3:c.122_125dup MANE Select | NP_671729.2:p.Pro43AlafsTer? |