Linked Data
gnomAD v4:
3-138945711-T-TGGGCGCGGGCGCCGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945720_138945734dup , CM000665.2:g.138945720_138945734dup | GRCh38 |
| NC_000003.11:g.138664562_138664576dup , CM000665.1:g.138664562_138664576dup | GRCh37 |
| NC_000003.10:g.140147252_140147266dup | NCBI36 |
| NG_012454.1:g.6415_6429dup | |
| NG_029796.1:g.3487_3501dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.997_1011dup MANE Select | ENSP00000497217.1:p.Pro337_Thr338insProAlaProAlaPro | |
| ENST00000330315.3:c.997_1011dup | ENSP00000333188.3:p.Pro337_Thr338insProAlaProAlaPro | |
| NM_023067.3:c.997_1011dup | NP_075555.1:p.Pro337_Thr338insProAlaProAlaPro | |
| NM_023067.4:c.997_1011dup MANE Select | NP_075555.1:p.Pro337_Thr338insProAlaProAlaPro |