Linked Data
gnomAD v4:
19-6713472-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713475del , CM000681.2:g.6713475del | GRCh38 |
| NC_000019.9:g.6713486del , CM000681.1:g.6713486del | GRCh37 |
| NC_000019.8:g.6664486del | NCBI36 |
| NG_009557.1:g.12179del , LRG_27:g.12179del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.687del | ENSP00000512083.1:p.Phe229LeufsTer? | |
| ENST00000695692.1:n.134del | ||
| ENST00000245907.11:c.810del MANE Select | ENSP00000245907.4:p.Phe270LeufsTer? | |
| ENST00000245907.10:c.810del | ENSP00000245907.4:p.Phe270LeufsTer? | |
| ENST00000595577.1:n.314del | ||
| ENST00000597442.5:n.60del | ||
| NM_000064.3:c.810del | NP_000055.2:p.Phe270LeufsTer? | |
| NM_000064.4:c.810del MANE Select | NP_000055.2:p.Phe270LeufsTer? |