Linked Data
gnomAD v4:
5-55233059-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233061dup , CM000667.2:g.55233061dup | GRCh38 |
| NC_000005.9:g.54528889dup , CM000667.1:g.54528889dup | GRCh37 |
| NC_000005.8:g.54564646dup | NCBI36 |
| NG_034201.1:g.5658dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.381+83dup MANE Select | ENSP00000282572.4:n.381+83dup | |
| ENST00000282572.4:c.381+83dup | ENSP00000282572.4:n.381+83dup | |
| ENST00000501463.2:c.*68dup | ENSP00000422485.1:n.*68dup | |
| NM_021147.4:c.381+83dup | NP_066970.3:n.381+83dup | |
| NR_125346.1:n.658dup | ||
| NR_125347.1:n.580+78dup | ||
| NM_021147.5:c.381+83dup MANE Select | NP_066970.3:n.381+83dup | |
| NR_125346.2:n.549dup | ||
| NR_125347.2:n.471+78dup |