Linked Data
gnomAD v4:
19-7530168-ATTCATGTGGGGCCCCAGCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530169_7530187del , CM000681.2:g.7530169_7530187del | GRCh38 |
| NC_000019.9:g.7595055_7595073del , CM000681.1:g.7595055_7595073del | GRCh37 |
| NC_000019.8:g.7501055_7501073del | NCBI36 |
| NG_013374.1:g.1018_1036del | |
| NG_015806.1:g.12560_12578del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1360-117_1360-99del MANE Select | ENSP00000264079.5:n.1360-117_1360-99del | |
| ENST00000264079.10:c.1360-117_1360-99del | ENSP00000264079.5:n.1360-117_1360-99del | |
| ENST00000394321.9:n.1675-117_1675-99del | ||
| ENST00000594692.1:n.356-117_356-99del | ||
| ENST00000595860.5:n.543-117_543-99del | ||
| ENST00000599334.1:c.237-266_237-248del | ||
| NM_020533.2:c.1360-117_1360-99del | NP_065394.1:n.1360-117_1360-99del | |
| NM_020533.3:c.1360-117_1360-99del MANE Select | NP_065394.1:n.1360-117_1360-99del |