Linked Data
gnomAD v4:
19-6713657-ACCCCCAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713663_6713669del , CM000681.2:g.6713663_6713669del | GRCh38 |
| NC_000019.9:g.6713674_6713680del , CM000681.1:g.6713674_6713680del | GRCh37 |
| NC_000019.8:g.6664674_6664680del | NCBI36 |
| NG_009557.1:g.11988_11994del , LRG_27:g.11988_11994del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.651-155_651-149del | ENSP00000512083.1:n.651-155_651-149del | |
| ENST00000245907.11:c.774-155_774-149del MANE Select | ENSP00000245907.4:n.774-155_774-149del | |
| ENST00000245907.10:c.774-155_774-149del | ENSP00000245907.4:n.774-155_774-149del | |
| ENST00000595577.1:n.278-155_278-149del | ||
| ENST00000597442.5:n.23+102_23+108del | ||
| NM_000064.3:c.774-155_774-149del | NP_000055.2:n.774-155_774-149del | |
| NM_000064.4:c.774-155_774-149del MANE Select | NP_000055.2:n.774-155_774-149del |