Linked Data
gnomAD v4:
19-6714546-GCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714549_6714550del , CM000681.2:g.6714549_6714550del | GRCh38 |
| NC_000019.9:g.6714560_6714561del , CM000681.1:g.6714560_6714561del | GRCh37 |
| NC_000019.8:g.6665560_6665561del | NCBI36 |
| NG_009557.1:g.11104_11105del , LRG_27:g.11104_11105del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.382-102_382-101del | ENSP00000512083.1:n.382-102_382-101del | |
| ENST00000245907.11:c.505-102_505-101del MANE Select | ENSP00000245907.4:n.505-102_505-101del | |
| ENST00000245907.10:c.505-102_505-101del | ENSP00000245907.4:n.505-102_505-101del | |
| NM_000064.3:c.505-102_505-101del | NP_000055.2:n.505-102_505-101del | |
| NM_000064.4:c.505-102_505-101del MANE Select | NP_000055.2:n.505-102_505-101del |