Linked Data
gnomAD v4:
19-7533940-TGGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533943_7533945del , CM000681.2:g.7533943_7533945del | GRCh38 |
| NC_000019.9:g.7598829_7598831del , CM000681.1:g.7598829_7598831del | GRCh37 |
| NC_000019.8:g.7504829_7504831del | NCBI36 |
| NG_013374.1:g.4792_4794del | |
| NG_015806.1:g.16334_16336del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*148_*150del MANE Select | ENSP00000264079.5:n.*148_*150del | |
| ENST00000264079.10:c.*148_*150del | ENSP00000264079.5:n.*148_*150del | |
| ENST00000394321.9:n.2206_2208del | ||
| ENST00000599334.1:c.619_621del | ||
| ENST00000601870.1:c.169+75_169+77del | ||
| ENST00000602227.1:n.445_447del | ||
| NM_020533.2:c.*148_*150del | NP_065394.1:n.*148_*150del | |
| NM_020533.3:c.*148_*150del MANE Select | NP_065394.1:n.*148_*150del |