Linked Data
ClinVar Variation Id:
36798
dbSNP Id:
rs193922578
MyVariant Identifiers:
chr12:g.121416701del (hg19)
chr12:g.121416697del (hg19)
chr12:g.120978898del (hg38)
chr12:g.120978894del (hg38)
ERepo:
CA214261/MONDO:0015967/017
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120978898del , CM000674.2:g.120978898del | GRCh38 |
| NC_000012.11:g.121416701del , CM000674.1:g.121416701del | GRCh37 |
| NC_000012.10:g.119901084del | NCBI36 |
| NG_011731.2:g.5153del , LRG_522:g.5153del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.130del | ENSP00000453965.2:p.Leu44TrpfsTer? | |
| ENST00000257555.11:c.130del MANE Select | ENSP00000257555.5:p.Leu44TrpfsTer? | |
| ENST00000257555.10:c.130del | ENSP00000257555.4:p.Leu44TrpfsTer? | |
| ENST00000400024.6:c.130del | ENSP00000476181.1:p.Leu44TrpfsTer? | |
| ENST00000402929.5:n.265del | ||
| ENST00000535955.5:n.42+206del | ||
| ENST00000538626.2:n.190+58del | ||
| ENST00000538646.5:c.130del | ENSP00000443964.1:p.Leu44TrpfsTer? | |
| ENST00000540108.1:c.130del | ENSP00000445445.1:p.Leu44TrpfsTer? | |
| ENST00000541395.5:c.130del | ENSP00000443112.1:p.Leu44TrpfsTer? | |
| ENST00000541924.5:c.130del | ENSP00000440361.1:p.Leu44TrpfsTer? | |
| ENST00000543427.5:c.130del | ENSP00000439721.2:p.Leu44TrpfsTer? | |
| ENST00000544413.2:c.130del | ENSP00000438804.1:p.Leu44TrpfsTer? | |
| ENST00000544574.5:c.72+58del | ENSP00000438565.1:n.72+58del | |
| ENST00000560968.5:c.273del | ||
| ENST00000615446.4:c.-258+187del | ENSP00000483994.1:n.-258+187del | |
| ENST00000617366.4:c.130del | ENSP00000481967.1:p.Leu44TrpfsTer? | |
| NM_000545.5:c.130del , LRG_522t1:c.130del | NP_000536.5:p.Leu44TrpfsTer? | |
| NM_000545.6:c.130del | NP_000536.5:p.Leu44TrpfsTer? | |
| NM_001306179.1:c.130del | NP_001293108.1:p.Leu44TrpfsTer? | |
| XM_005253931.2:c.130del | XP_005253988.1:p.Leu44TrpfsTer? | |
| XM_024449168.1:c.130del | XP_024304936.1:p.Leu44TrpfsTer? | |
| NM_000545.8:c.130del MANE Select | NP_000536.6:p.Leu44TrpfsTer? | |
| NM_001306179.2:c.130del | NP_001293108.2:p.Leu44TrpfsTer? |