Linked Data
dbSNP Id:
rs1770011705
gnomAD v3:
6-32842899-GCCCAGCTC-G
gnomAD v4:
6-32842899-GCCCAGCTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32842905_32842912del , CM000668.2:g.32842905_32842912del | GRCh38 |
| NC_000006.11:g.32810682_32810689del , CM000668.1:g.32810682_32810689del | GRCh37 |
| NC_000006.10:g.32918660_32918667del | NCBI36 |
| NG_009793.3:g.864_871del | |
| NG_028165.1:g.7029_7036del | |
| NG_009793.4:g.864_871del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.351_358del | ||
| ENST00000697612.1:n.1029_1036del | ||
| ENST00000374881.3:c.283+35_283+42del | ENSP00000364015.2:n.283+35_283+42del | |
| ENST00000374882.8:c.295+35_295+42del MANE Select | ENSP00000364016.4:n.295+35_295+42del | |
| ENST00000650411.1:n.1616+35_1616+42del | ||
| ENST00000650793.1:n.351_358del | ||
| ENST00000374881.2:c.283+35_283+42del | ENSP00000364015.2:n.283+35_283+42del | |
| ENST00000374882.7:c.295+35_295+42del | ENSP00000364016.3:n.295+35_295+42del | |
| ENST00000395339.7:c.295+35_295+42del | ENSP00000378748.3:n.295+35_295+42del | |
| ENST00000484003.1:n.556_563del | ||
| NM_004159.4:c.283+35_283+42del | NP_004150.1:n.283+35_283+42del | |
| NM_148919.3:c.295+35_295+42del | NP_683720.2:n.295+35_295+42del | |
| NM_148919.4:c.295+35_295+42del MANE Select | NP_683720.2:n.295+35_295+42del | |
| NM_004159.5:c.283+35_283+42del | NP_004150.1:n.283+35_283+42del |