Linked Data
gnomAD v4:
3-138945989-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945991del , CM000665.2:g.138945991del | GRCh38 |
| NC_000003.11:g.138664833del , CM000665.1:g.138664833del | GRCh37 |
| NC_000003.10:g.140147523del | NCBI36 |
| NG_012454.1:g.6151del | |
| NG_029796.1:g.3758del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.733del MANE Select | ENSP00000497217.1:p.Val245SerfsTer26 | |
| ENST00000330315.3:c.733del | ENSP00000333188.3:p.Val245SerfsTer26 | |
| NM_023067.3:c.733del | NP_075555.1:p.Val245SerfsTer26 | |
| NM_023067.4:c.733del MANE Select | NP_075555.1:p.Val245SerfsTer26 |