Linked Data
gnomAD v4:
19-4816164-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816168del , CM000681.2:g.4816168del | GRCh38 |
| NC_000019.9:g.4816180del , CM000681.1:g.4816180del | GRCh37 |
| NC_000019.8:g.4767180del | NCBI36 |
| NG_031998.1:g.20578del , LRG_358:g.20578del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.*74del MANE Select | ENSP00000248244.4:n.*74del | |
| ENST00000248244.5:c.*74del | ENSP00000248244.4:n.*74del | |
| NM_182919.3:c.*74del , LRG_358t1:c.*74del | NP_891549.1:n.*74del | |
| NM_001385678.1:c.*74del | NP_001372607.1:n.*74del | |
| NM_001385679.1:c.*74del | NP_001372608.1:n.*74del | |
| NM_001385680.1:c.*74del | NP_001372609.1:n.*74del | |
| NM_182919.4:c.*74del MANE Select | NP_891549.1:n.*74del |