Linked Data
gnomAD v4:
3-138946069-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946070del , CM000665.2:g.138946070del | GRCh38 |
| NC_000003.11:g.138664912del , CM000665.1:g.138664912del | GRCh37 |
| NC_000003.10:g.140147602del | NCBI36 |
| NG_012454.1:g.6071del | |
| NG_029796.1:g.3837del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.653del MANE Select | ENSP00000497217.1:p.Cys218SerfsTer? | |
| ENST00000330315.3:c.653del | ENSP00000333188.3:p.Cys218SerfsTer? | |
| NM_023067.3:c.653del | NP_075555.1:p.Cys218SerfsTer? | |
| NM_023067.4:c.653del MANE Select | NP_075555.1:p.Cys218SerfsTer? |