Linked Data
gnomAD v4:
19-7530185-GCCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530189_7530191del , CM000681.2:g.7530189_7530191del | GRCh38 |
| NC_000019.9:g.7595075_7595077del , CM000681.1:g.7595075_7595077del | GRCh37 |
| NC_000019.8:g.7501075_7501077del | NCBI36 |
| NG_013374.1:g.1038_1040del | |
| NG_015806.1:g.12580_12582del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1360-97_1360-95del MANE Select | ENSP00000264079.5:n.1360-97_1360-95del | |
| ENST00000264079.10:c.1360-97_1360-95del | ENSP00000264079.5:n.1360-97_1360-95del | |
| ENST00000394321.9:n.1675-97_1675-95del | ||
| ENST00000594692.1:n.356-97_356-95del | ||
| ENST00000595860.5:n.543-97_543-95del | ||
| ENST00000599334.1:c.237-246_237-244del | ||
| NM_020533.2:c.1360-97_1360-95del | NP_065394.1:n.1360-97_1360-95del | |
| NM_020533.3:c.1360-97_1360-95del MANE Select | NP_065394.1:n.1360-97_1360-95del |