Linked Data
dbSNP Id:
rs768312313
gnomAD v2:
10-79739819-CAT-C
gnomAD v3:
10-77980061-CAT-C
gnomAD v4:
10-77980061-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.77980062_77980063del , CM000672.2:g.77980062_77980063del | GRCh38 |
| NC_000010.10:g.79739820_79739821del , CM000672.1:g.79739820_79739821del | GRCh37 |
| NC_000010.9:g.79409826_79409827del | NCBI36 |
| NG_029648.1:g.54478_54479del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698724.1:n.1941+78_1941+79del | ||
| ENST00000698725.1:n.1694+78_1694+79del | ||
| ENST00000698726.1:n.3254+78_3254+79del | ||
| ENST00000698727.1:n.2987+78_2987+79del | ||
| ENST00000698728.1:n.3603+78_3603+79del | ||
| ENST00000698729.1:n.5051+78_5051+79del | ||
| ENST00000698730.1:n.5149+78_5149+79del | ||
| ENST00000698731.1:c.3883+78_3883+79del | ENSP00000513898.1:n.3883+78_3883+79del | |
| ENST00000698732.1:c.*2713+78_*2713+79del | ENSP00000513899.1:n.*2713+78_*2713+79del | |
| ENST00000698733.1:c.*3211+78_*3211+79del | ENSP00000513900.1:n.*3211+78_*3211+79del | |
| ENST00000698734.1:c.*2197+78_*2197+79del | ENSP00000513901.1:n.*2197+78_*2197+79del | |
| ENST00000698735.1:n.4375+78_4375+79del | ||
| ENST00000698736.1:n.4788+78_4788+79del | ||
| ENST00000372371.8:c.4024+78_4024+79del MANE Select | ENSP00000361446.3:n.4024+78_4024+79del | |
| ENST00000372371.7:c.4024+78_4024+79del | ENSP00000361446.3:n.4024+78_4024+79del | |
| ENST00000616246.4:c.472+78_472+79del | ENSP00000483738.1:n.472+78_472+79del | |
| NM_007055.3:c.4024+78_4024+79del | NP_008986.2:n.4024+78_4024+79del | |
| NM_007055.4:c.4024+78_4024+79del MANE Select | NP_008986.2:n.4024+78_4024+79del |