Linked Data
ClinVar Variation Id:
36796
dbSNP Id:
rs193922576
gnomAD v3:
12-120996557-GC-G
gnomAD v4:
12-120996557-GC-G
MyVariant Identifiers:
chr12:g.121434365del (hg19)
chr12:g.121434361del (hg19)
chr12:g.120996562del (hg38)
chr12:g.120996558del (hg38)
ERepo:
CA214257/MONDO:0015967/017
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120996562del , CM000674.2:g.120996562del | GRCh38 |
| NC_000012.11:g.121434365del , CM000674.1:g.121434365del | GRCh37 |
| NC_000012.10:g.119918748del | NCBI36 |
| NG_011731.2:g.22817del , LRG_522:g.22817del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560968.6:c.803del | ENSP00000453965.2:p.Pro268LeufsTer? | |
| ENST00000257555.11:c.1129del MANE Select | ENSP00000257555.5:p.Leu377SerfsTer7 | |
| ENST00000257555.10:c.1129del | ENSP00000257555.4:p.Leu377SerfsTer7 | |
| ENST00000400024.6:c.1129del | ENSP00000476181.1:p.Leu377SerfsTer7 | |
| ENST00000402929.5:n.1264del | ||
| ENST00000535955.5:n.43-929del | ||
| ENST00000538626.2:n.191-929del | ||
| ENST00000538646.5:c.*105del | ENSP00000443964.1:n.*105del | |
| ENST00000540108.1:c.*569del | ENSP00000445445.1:n.*569del | |
| ENST00000541395.5:c.1129del | ENSP00000443112.1:p.Leu377SerfsTer7 | |
| ENST00000541924.5:c.*143del | ENSP00000440361.1:n.*143del | |
| ENST00000543255.1:n.173del | ||
| ENST00000543427.5:c.634-42del | ENSP00000439721.2:n.634-42del | |
| ENST00000544413.2:c.1129del | ENSP00000438804.1:p.Leu377SerfsTer7 | |
| ENST00000544574.5:c.73-55del | ENSP00000438565.1:n.73-55del | |
| ENST00000560968.5:c.946del | ||
| ENST00000615446.4:c.-84del | ENSP00000483994.1:n.-84del | |
| ENST00000617366.4:c.587-1072del | ENSP00000481967.1:n.587-1072del | |
| NM_000545.5:c.1129del , LRG_522t1:c.1129del | NP_000536.5:p.Leu377SerfsTer7 | |
| NM_000545.6:c.1129del | NP_000536.5:p.Leu377SerfsTer7 | |
| NM_001306179.1:c.1129del | NP_001293108.1:p.Leu377SerfsTer7 | |
| XM_005253931.2:c.1129del | XP_005253988.1:p.Leu377SerfsTer7 | |
| XM_024449168.1:c.1129del | XP_024304936.1:p.Leu377SerfsTer7 | |
| NM_000545.8:c.1129del MANE Select | NP_000536.6:p.Leu377SerfsTer7 | |
| NM_001306179.2:c.1129del | NP_001293108.2:p.Leu377SerfsTer7 |