Linked Data
dbSNP Id:
rs746353912
ExAC:
6:24302287 GA / G
gnomAD v2:
6-24302287-GA-G
gnomAD v3:
6-24302059-GA-G
gnomAD v4:
6-24302059-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24302067del , CM000668.2:g.24302067del | GRCh38 |
| NC_000006.11:g.24302295del , CM000668.1:g.24302295del | GRCh37 |
| NC_000006.10:g.24410274del | NCBI36 |
| NG_012829.1:g.60993del | |
| NG_012829.2:g.86233del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.349-16del MANE Select | ENSP00000367715.3:n.349-16del | |
| ENST00000378454.7:c.349-16del | ENSP00000367715.3:n.349-16del | |
| NM_001195610.1:c.349-16del | NP_001182539.1:n.349-16del | |
| NM_016356.4:c.349-16del | NP_057440.2:n.349-16del | |
| NM_016356.5:c.349-16del MANE Select | NP_057440.2:n.349-16del | |
| NM_001195610.2:c.349-16del | NP_001182539.1:n.349-16del |