Linked Data
ClinVar Variation Id:
190219
dbSNP Id:
rs786205207
gnomAD v2:
19-50365103-CGTG-C
gnomAD v3:
19-49861846-CGTG-C
gnomAD v4:
19-49861846-CGTG-C
PubMed:
PMID:25728773
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861849_49861851del , CM000681.2:g.49861849_49861851del | GRCh38 |
| NC_000019.9:g.50365106_50365108del , CM000681.1:g.50365106_50365108del | GRCh37 |
| NC_000019.8:g.55056918_55056920del | NCBI36 |
| NG_027717.1:g.10717_10719del | |
| NG_050666.1:g.18006_18008del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322344.8:c.1221_1223del MANE Select | ENSP00000323511.2:p.Thr408del | |
| ENST00000322344.7:c.1221_1223del | ENSP00000323511.2:p.Thr408del | |
| ENST00000593706.3:n.817_819del | ||
| ENST00000593946.5:c.*1148_*1150del | ENSP00000468896.1:n.*1148_*1150del | |
| ENST00000594661.5:n.1722_1724del | ||
| ENST00000595081.5:n.48_50del | ||
| ENST00000596014.5:c.1221_1223del | ENSP00000472300.1:p.Thr408del | |
| ENST00000599454.5:n.65_67del | ||
| ENST00000600573.5:c.1128_1130del | ENSP00000469826.1:p.Thr377del | |
| ENST00000600910.5:c.1189-154_1189-152del | ENSP00000473137.1:n.1189-154_1189-152del | |
| ENST00000601816.3:n.120_122del | ||
| ENST00000625216.2:c.302_304del | ENSP00000486898.1:n.302_304del | |
| ENST00000627232.2:c.1141_1143del | ENSP00000486037.1:n.1141_1143del | |
| ENST00000631020.2:c.1113_1115del | ENSP00000486707.1:p.Thr372del | |
| NM_007254.3:c.1221_1223del | NP_009185.2:p.Thr408del | |
| NM_007254.4:c.1221_1223del MANE Select | NP_009185.2:p.Thr408del |