Linked Data
gnomAD v4:
17-42404677-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404682dup , CM000679.2:g.42404682dup | GRCh38 |
| NC_000017.10:g.40556700dup , CM000679.1:g.40556700dup | GRCh37 |
| NC_000017.9:g.37810226dup | NCBI36 |
| NG_015845.1:g.23643dup | |
| NG_015845.2:g.23643dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.*9dup MANE Select | ENSP00000349541.4:n.*9dup | |
| ENST00000357037.5:c.*9dup | ENSP00000349541.4:n.*9dup | |
| NM_012232.5:c.*9dup | NP_036364.2:n.*9dup | |
| NM_012232.6:c.*9dup MANE Select | NP_036364.2:n.*9dup |