Linked Data
gnomAD v4:
19-45766814-GTCTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766815_45766818del , CM000681.2:g.45766815_45766818del | GRCh38 |
| NC_000019.9:g.46270073_46270076del , CM000681.1:g.46270073_46270076del | GRCh37 |
| NC_000019.8:g.50961913_50961916del | NCBI36 |
| NG_012745.1:g.7422_7425del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.1141_1144del MANE Select | ENSP00000316842.4:p.Lys381ProfsTer? | |
| ENST00000317578.6:c.1141_1144del | ENSP00000316842.4:p.Lys381ProfsTer? | |
| ENST00000560160.1:c.587-707_587-704del | ||
| ENST00000560168.1:c.*329_*332del | ENSP00000453189.2:n.*329_*332del | |
| ENST00000622857.1:c.16-856_16-853del | ENSP00000481365.1:n.16-856_16-853del | |
| NM_175875.4:c.1141_1144del | NP_787071.2:p.Lys381ProfsTer? | |
| NM_175875.5:c.1141_1144del MANE Select | NP_787071.3:p.Lys381ProfsTer? |