Linked Data
gnomAD v4:
12-52520382-A-AGGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520385_52520387dup , CM000674.2:g.52520385_52520387dup | GRCh38 |
| NC_000012.11:g.52914169_52914171dup , CM000674.1:g.52914169_52914171dup | GRCh37 |
| NC_000012.10:g.51200436_51200438dup | NCBI36 |
| NG_008297.1:g.5075_5077dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.-89_-87dup MANE Select | ENSP00000252242.4:n.-89_-87dup | |
| ENST00000252242.8:c.-89_-87dup | ENSP00000252242.4:n.-89_-87dup | |
| ENST00000546577.1:c.-13+12_-13+14dup | ENSP00000449651.1:n.-13+12_-13+14dup | |
| ENST00000551275.1:c.-89_-87dup | ENSP00000448041.1:n.-89_-87dup | |
| ENST00000552629.5:n.10_12dup | ||
| NM_000424.3:c.-89_-87dup | NP_000415.2:n.-89_-87dup | |
| NM_000424.4:c.-89_-87dup MANE Select | NP_000415.2:n.-89_-87dup |