Linked Data
gnomAD v4:
14-23423829-GGCTA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23423832_23423835del , CM000676.2:g.23423832_23423835del | GRCh38 |
| NC_000014.8:g.23893041_23893044del , CM000676.1:g.23893041_23893044del | GRCh37 |
| NC_000014.7:g.22962881_22962884del | NCBI36 |
| NG_007884.1:g.16829_16832del , LRG_384:g.16829_16832del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2922+74_2922+77del MANE Select | ENSP00000347507.3:n.2922+74_2922+77del | |
| ENST00000355349.3:c.2922+74_2922+77del | ENSP00000347507.3:n.2922+74_2922+77del | |
| NM_000257.3:c.2922+74_2922+77del | NP_000248.2:n.2922+74_2922+77del | |
| XR_245686.3:n.3028+74_3028+77del | ||
| XM_017021340.1:c.2922+74_2922+77del | XP_016876829.1:n.2922+74_2922+77del | |
| NM_000257.4:c.2922+74_2922+77del MANE Select | NP_000248.2:n.2922+74_2922+77del |