Linked Data
gnomAD v4:
19-7530166-CCATTCATGTGGGGCCCCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530167_7530184del , CM000681.2:g.7530167_7530184del | GRCh38 |
| NC_000019.9:g.7595053_7595070del , CM000681.1:g.7595053_7595070del | GRCh37 |
| NC_000019.8:g.7501053_7501070del | NCBI36 |
| NG_013374.1:g.1016_1033del | |
| NG_015806.1:g.12558_12575del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1360-119_1360-102del MANE Select | ENSP00000264079.5:n.1360-119_1360-102del | |
| ENST00000264079.10:c.1360-119_1360-102del | ENSP00000264079.5:n.1360-119_1360-102del | |
| ENST00000394321.9:n.1675-119_1675-102del | ||
| ENST00000594692.1:n.356-119_356-102del | ||
| ENST00000595860.5:n.543-119_543-102del | ||
| ENST00000599334.1:c.237-268_237-251del | ||
| NM_020533.2:c.1360-119_1360-102del | NP_065394.1:n.1360-119_1360-102del | |
| NM_020533.3:c.1360-119_1360-102del MANE Select | NP_065394.1:n.1360-119_1360-102del |