Linked Data
gnomAD v4:
19-15192106-GGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15192111_15192112del , CM000681.2:g.15192111_15192112del | GRCh38 |
| NC_000019.9:g.15302922_15302923del , CM000681.1:g.15302922_15302923del | GRCh37 |
| NC_000019.8:g.15163922_15163923del | NCBI36 |
| NG_009819.1:g.13874_13875del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.531_532del MANE Select | ENSP00000263388.1:p.Pro178TrpfsTer17 | |
| ENST00000263388.6:c.531_532del | ENSP00000263388.1:p.Pro178TrpfsTer17 | |
| ENST00000601011.1:c.528_529del | ENSP00000473138.1:p.Pro177TrpfsTer17 | |
| NM_000435.2:c.531_532del | NP_000426.2:p.Pro178TrpfsTer17 | |
| XM_005259924.3:c.531_532del | XP_005259981.1:p.Pro178TrpfsTer17 | |
| XM_005259924.4:c.531_532del | XP_005259981.1:p.Pro178TrpfsTer17 | |
| NM_000435.3:c.531_532del MANE Select | NP_000426.2:p.Pro178TrpfsTer17 |