Linked Data
gnomAD v4:
14-23421136-TAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23421138_23421139del , CM000676.2:g.23421138_23421139del | GRCh38 |
| NC_000014.8:g.23890347_23890348del , CM000676.1:g.23890347_23890348del | GRCh37 |
| NC_000014.7:g.22960187_22960188del | NCBI36 |
| NG_007884.1:g.19524_19525del , LRG_384:g.19524_19525del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3246-90_3246-89del MANE Select | ENSP00000347507.3:n.3246-90_3246-89del | |
| ENST00000355349.3:c.3246-90_3246-89del | ENSP00000347507.3:n.3246-90_3246-89del | |
| NM_000257.3:c.3246-90_3246-89del | NP_000248.2:n.3246-90_3246-89del | |
| XR_245686.3:n.3354-90_3354-89del | ||
| XM_017021340.1:c.3246-90_3246-89del | XP_016876829.1:n.3246-90_3246-89del | |
| NM_000257.4:c.3246-90_3246-89del MANE Select | NP_000248.2:n.3246-90_3246-89del |