Linked Data
gnomAD v4:
16-89919514-C-CTGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919517_89919519dup , CM000678.2:g.89919517_89919519dup | GRCh38 |
| NC_000016.9:g.89985925_89985927dup , CM000678.1:g.89985925_89985927dup | GRCh37 |
| NC_000016.8:g.88513426_88513428dup | NCBI36 |
| NG_012026.1:g.6639_6641dup | |
| NG_027810.1:g.2509_2511dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555147.2:c.259_261dup MANE Select | ENSP00000451605.1:p.Val87_Ser88insVal | |
| ENST00000639847.1:c.259_261dup | ENSP00000492011.1:p.Val87_Ser88insVal | |
| ENST00000555147.1:c.259_261dup | ENSP00000451605.1:p.Val87_Ser88insVal | |
| ENST00000555427.1:c.259_261dup | ENSP00000451760.1:p.Val87_Ser88insVal | |
| ENST00000556922.1:c.259_261dup | ENSP00000451560.1:p.Val87_Ser88insVal | |
| NM_002386.3:c.259_261dup | NP_002377.4:p.Val87_Ser88insVal | |
| NM_002386.4:c.259_261dup MANE Select | NP_002377.4:p.Val87_Ser88insVal |