Linked Data
gnomAD v4:
19-7528300-GCCTGTCCTGGGATTCCCCAAGCCCCAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528301_7528328del , CM000681.2:g.7528301_7528328del | GRCh38 |
| NC_000019.9:g.7593187_7593214del , CM000681.1:g.7593187_7593214del | GRCh37 |
| NC_000019.8:g.7499187_7499214del | NCBI36 |
| NG_015806.1:g.10692_10719del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.877+44_877+71del MANE Select | ENSP00000264079.5:n.877+44_877+71del | |
| ENST00000264079.10:c.877+44_877+71del | ENSP00000264079.5:n.877+44_877+71del | |
| ENST00000394321.9:n.1192+44_1192+71del | ||
| NM_020533.2:c.877+44_877+71del | NP_065394.1:n.877+44_877+71del | |
| NM_020533.3:c.877+44_877+71del MANE Select | NP_065394.1:n.877+44_877+71del |