Linked Data
dbSNP Id:
rs1433655883
gnomAD v2:
19-54403635-ACTGACCTT-A
gnomAD v4:
19-53900381-ACTGACCTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53900387_53900394del , CM000681.2:g.53900387_53900394del | GRCh38 |
| NC_000019.9:g.54403641_54403648del , CM000681.1:g.54403641_54403648del | GRCh37 |
| NC_000019.8:g.59095453_59095460del | NCBI36 |
| NG_009114.1:g.23175_23182del , LRG_669:g.23175_23182del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.1374-32_1374-25del | ENSP00000507230.1:n.1374-32_1374-25del | |
| ENST00000682268.1:n.1672-32_1672-25del | ||
| ENST00000682676.1:n.775-32_775-25del | ||
| ENST00000682902.1:n.1676-32_1676-25del | ||
| ENST00000683513.1:c.1374-32_1374-25del | ENSP00000506809.1:n.1374-32_1374-25del | |
| ENST00000263431.4:c.1374-32_1374-25del MANE Select | ENSP00000263431.3:n.1374-32_1374-25del | |
| ENST00000263431.3:c.1374-32_1374-25del | ENSP00000263431.3:n.1374-32_1374-25del | |
| NM_001316329.1:c.1374-32_1374-25del | NP_001303258.1:n.1374-32_1374-25del | |
| NM_002739.3:c.1374-32_1374-25del , LRG_669t1:c.1374-32_1374-25del | NP_002730.1:n.1374-32_1374-25del | |
| NM_002739.4:c.1374-32_1374-25del | NP_002730.1:n.1374-32_1374-25del | |
| XM_011527108.1:c.465-32_465-25del | XP_011525410.1:n.465-32_465-25del | |
| NM_002739.5:c.1374-32_1374-25del MANE Select | NP_002730.1:n.1374-32_1374-25del | |
| NM_001316329.2:c.1374-32_1374-25del | NP_001303258.1:n.1374-32_1374-25del |