gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546440_31546443del , CM000680.2:g.31546440_31546443del | GRCh38 |
| NC_000018.9:g.29126403_29126406del , CM000680.1:g.29126403_29126406del | GRCh37 |
| NC_000018.8:g.27380401_27380404del | NCBI36 |
| NG_007072.3:g.53199_53202del , LRG_397:g.53199_53202del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.3054_3057del (DSG2) MANE Select | ENSP00000261590.8:p.Glu1020AlafsTer18 | |
| ENST00000261590.12:c.3054_3057del (DSG2) | ENSP00000261590.8:p.Glu1020AlafsTer18 | |
| NM_001943.3:c.3054_3057del , LRG_397t1:c.3054_3057del (DSG2) | NP_001934.2:p.Glu1020AlafsTer18 | |
| NR_045216.1:n.1346-535_1346-532del (DSG2-AS1) | ||
| NM_001943.4:c.3054_3057del (DSG2) | NP_001934.2:p.Glu1020AlafsTer18 | |
| XM_024451095.1:c.2520_2523del (DSG2) | XP_024306863.1:p.Glu842AlafsTer18 | |
| NM_001943.5:c.3054_3057del (DSG2) MANE Select | NP_001934.2:p.Glu1020AlafsTer18 |