Linked Data
dbSNP Id:
rs769313869
ExAC:
6:33037451 TCA / T
gnomAD v2:
6-33037451-TCA-T
gnomAD v3:
6-33069674-TCA-T
gnomAD v4:
6-33069674-TCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33069675_33069676del , CM000668.2:g.33069675_33069676del | GRCh38 |
| NC_000006.11:g.33037452_33037453del , CM000668.1:g.33037452_33037453del | GRCh37 |
| NC_000006.10:g.33145430_33145431del | NCBI36 |
| NG_033241.1:g.16103_16104del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692443.1:c.311_312del MANE Select | ENSP00000509163.1:p.Leu104TyrfsTer15 | |
| ENST00000419277.5:c.311_312del | ENSP00000393566.1:p.Leu104TyrfsTer15 | |
| ENST00000453337.1:c.311_312del | ENSP00000390929.1:p.Leu104TyrfsTer15 | |
| ENST00000463066.1:n.406_407del | ||
| ENST00000476642.5:n.287_288del | ||
| ENST00000479107.1:n.356_357del | ||
| NM_001242524.1:c.311_312del | NP_001229453.1:p.Leu104TyrfsTer15 | |
| NM_001242525.1:c.311_312del | NP_001229454.1:p.Leu104TyrfsTer15 | |
| NM_033554.3:c.311_312del | NP_291032.2:p.Leu104TyrfsTer15 | |
| XM_011514559.1:c.311_312del | XP_011512861.1:p.Leu104TyrfsTer15 | |
| NM_001242524.2:c.311_312del | NP_001229453.1:p.Leu104TyrfsTer15 | |
| NM_001242525.2:c.311_312del | NP_001229454.1:p.Leu104TyrfsTer15 |