Linked Data
gnomAD v4:
19-7530174-GTGGGGCCCCAGCCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530175_7530188del , CM000681.2:g.7530175_7530188del | GRCh38 |
| NC_000019.9:g.7595061_7595074del , CM000681.1:g.7595061_7595074del | GRCh37 |
| NC_000019.8:g.7501061_7501074del | NCBI36 |
| NG_013374.1:g.1024_1037del | |
| NG_015806.1:g.12566_12579del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1360-111_1360-98del MANE Select | ENSP00000264079.5:n.1360-111_1360-98del | |
| ENST00000264079.10:c.1360-111_1360-98del | ENSP00000264079.5:n.1360-111_1360-98del | |
| ENST00000394321.9:n.1675-111_1675-98del | ||
| ENST00000594692.1:n.356-111_356-98del | ||
| ENST00000595860.5:n.543-111_543-98del | ||
| ENST00000599334.1:c.237-260_237-247del | ||
| NM_020533.2:c.1360-111_1360-98del | NP_065394.1:n.1360-111_1360-98del | |
| NM_020533.3:c.1360-111_1360-98del MANE Select | NP_065394.1:n.1360-111_1360-98del |