Linked Data
gnomAD v4:
5-55233637-ACCCGGCCGGCTCCTTCTCTCTACCACACC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233645_55233673del , CM000667.2:g.55233645_55233673del | GRCh38 |
| NC_000005.9:g.54529473_54529501del , CM000667.1:g.54529473_54529501del | GRCh37 |
| NC_000005.8:g.54565230_54565258del | NCBI36 |
| NG_034201.1:g.5052_5080del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.4:c.-143_-115del | ENSP00000282572.4:n.-143_-115del | |
| NM_021147.4:c.-143_-115del | NP_066970.3:n.-143_-115del | |
| NR_125346.1:n.52_80del | ||
| NR_125347.1:n.52_80del |