Linked Data
ClinVar Variation Id:
179849
dbSNP Id:
rs386802145
MyVariant Identifiers:
chr18:g.29126630_29126632delinsTTA (hg19)
chr18:g.31546667_31546669delinsTTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546667_31546669delinsTTA , CM000680.2:g.31546667_31546669delinsTTA | GRCh38 |
| NC_000018.9:g.29126630_29126632delinsTTA , CM000680.1:g.29126630_29126632delinsTTA | GRCh37 |
| NC_000018.8:g.27380628_27380630delinsTTA | NCBI36 |
| NG_007072.3:g.53426_53428delinsTTA , LRG_397:g.53426_53428delinsTTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.3281_3283delinsTTA (DSG2) MANE Select | ENSP00000261590.8:p.Gly1094_His1095delinsValAsn | |
| ENST00000261590.12:c.3281_3283delinsTTA (DSG2) | ENSP00000261590.8:p.Gly1094_His1095delinsValAsn | |
| NM_001943.3:c.3281_3283delinsTTA , LRG_397t1:c.3281_3283delinsTTA (DSG2) | NP_001934.2:p.Gly1094_His1095delinsValAsn | |
| NR_045216.1:n.1346-763_1346-761delinsTAA (DSG2-AS1) | ||
| NM_001943.4:c.3281_3283delinsTTA (DSG2) | NP_001934.2:p.Gly1094_His1095delinsValAsn | |
| XM_024451095.1:c.2747_2749delinsTTA (DSG2) | XP_024306863.1:p.Gly916_His917delinsValAsn | |
| NM_001943.5:c.3281_3283delinsTTA (DSG2) MANE Select | NP_001934.2:p.Gly1094_His1095delinsValAsn |