Linked Data
gnomAD v4:
16-67436558-C-CCCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436560_67436562dup , CM000678.2:g.67436560_67436562dup | GRCh38 |
| NC_000016.9:g.67470463_67470465dup , CM000678.1:g.67470463_67470465dup | GRCh37 |
| NC_000016.8:g.66027964_66027966dup | NCBI36 |
| NG_011482.1:g.49626_49628dup | |
| NG_016549.1:g.10428_10430dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.803-28_803-26dup MANE Select | ENSP00000316786.5:n.803-28_803-26dup | |
| ENST00000326152.5:c.803-28_803-26dup | ENSP00000316786.5:n.803-28_803-26dup | |
| NM_000196.3:c.803-28_803-26dup | NP_000187.3:n.803-28_803-26dup | |
| NM_000196.4:c.803-28_803-26dup MANE Select | NP_000187.3:n.803-28_803-26dup |