Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546728_31546730del , CM000680.2:g.31546728_31546730del | GRCh38 |
| NC_000018.9:g.29126691_29126693del , CM000680.1:g.29126691_29126693del | GRCh37 |
| NC_000018.8:g.27380689_27380691del | NCBI36 |
| NG_007072.3:g.53487_53489del , LRG_397:g.53487_53489del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.3342_3344del (DSG2) MANE Select | ENSP00000261590.8:p.Gln1114del | |
| ENST00000261590.12:c.3342_3344del (DSG2) | ENSP00000261590.8:p.Gln1114del | |
| NM_001943.3:c.3342_3344del , LRG_397t1:c.3342_3344del (DSG2) | NP_001934.2:p.Gln1114del | |
| NR_045216.1:n.1346-822_1346-820del (DSG2-AS1) | ||
| NM_001943.4:c.3342_3344del (DSG2) | NP_001934.2:p.Gln1114del | |
| XM_024451095.1:c.2808_2810del (DSG2) | XP_024306863.1:p.Gln936del | |
| NM_001943.5:c.3342_3344del (DSG2) MANE Select | NP_001934.2:p.Gln1114del |