Linked Data
gnomAD v4:
13-20192646-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20192652dup , CM000675.2:g.20192652dup | GRCh38 |
| NC_000013.10:g.20766791dup , CM000675.1:g.20766791dup | GRCh37 |
| NC_000013.9:g.19664791dup | NCBI36 |
| NG_008358.1:g.5329dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382848.5:c.-23+136dup MANE Select | ENSP00000372299.4:n.-23+136dup | |
| ENST00000382848.4:c.-23+136dup | ENSP00000372299.4:n.-23+136dup | |
| NM_004004.5:c.-23+136dup | NP_003995.2:n.-23+136dup | |
| NM_004004.6:c.-23+136dup MANE Select | NP_003995.2:n.-23+136dup |