Linked Data
gnomAD v4:
5-55233277-GGGGGCTACCACCCCGCGCCGCAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233284_55233307del , CM000667.2:g.55233284_55233307del | GRCh38 |
| NC_000005.9:g.54529112_54529135del , CM000667.1:g.54529112_54529135del | GRCh37 |
| NC_000005.8:g.54564869_54564892del | NCBI36 |
| NG_034201.1:g.5417_5440del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.223_246del MANE Select | ENSP00000282572.4:p.Ser75_Pro82del | |
| ENST00000282572.4:c.223_246del | ENSP00000282572.4:p.Ser75_Pro82del | |
| ENST00000501463.2:c.223_246del | ENSP00000422485.1:p.Ser75_Pro82del | |
| NM_021147.4:c.223_246del | NP_066970.3:p.Ser75_Pro82del | |
| NR_125346.1:n.417_440del | ||
| NR_125347.1:n.417_440del | ||
| NM_021147.5:c.223_246del MANE Select | NP_066970.3:p.Ser75_Pro82del | |
| NR_125346.2:n.308_331del | ||
| NR_125347.2:n.308_331del |