Linked Data
dbSNP Id:
rs770251054
ExAC:
6:31237772 GTGA / G
gnomAD v2:
6-31237772-GTGA-G
gnomAD v3:
6-31269995-GTGA-G
gnomAD v4:
6-31269995-GTGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269996_31269998del , CM000668.2:g.31269996_31269998del | GRCh38 |
| NC_000006.11:g.31237773_31237775del , CM000668.1:g.31237773_31237775del | GRCh37 |
| NC_000006.10:g.31345752_31345754del | NCBI36 |
| NG_029422.2:g.7134_7136del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.983_985del MANE Select | ENSP00000365402.5:p.Val328_Thr329delinsAl... | |
| ENST00000376228.9:c.983_985del | ENSP00000365402.5:p.Val328_Thr329delinsAl... | |
| ENST00000376237.8:c.*570_*572del | ENSP00000365412.4:n.*570_*572del | |
| ENST00000383329.7:c.983_985del | ENSP00000372819.3:p.Val328_Thr329delinsAl... | |
| ENST00000470363.5:n.301_303del | ||
| ENST00000487245.5:n.1342_1344del | ||
| NM_002117.5:c.983_985del | NP_002108.4:p.Val328_Thr329delinsAla | |
| NM_002117.6:c.983_985del MANE Select | NP_002108.4:p.Val328_Thr329delinsAla |