Linked Data
gnomAD v4:
14-23431527-ATC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431529_23431530del , CM000676.2:g.23431529_23431530del | GRCh38 |
| NC_000014.8:g.23900738_23900739del , CM000676.1:g.23900738_23900739del | GRCh37 |
| NC_000014.7:g.22970578_22970579del | NCBI36 |
| NG_007884.1:g.9133_9134del , LRG_384:g.9133_9134del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.733-48_733-47del MANE Select | ENSP00000347507.3:n.733-48_733-47del | |
| ENST00000355349.3:c.733-48_733-47del | ENSP00000347507.3:n.733-48_733-47del | |
| NM_000257.3:c.733-48_733-47del | NP_000248.2:n.733-48_733-47del | |
| XR_245686.3:n.839-48_839-47del | ||
| XM_017021340.1:c.733-48_733-47del | XP_016876829.1:n.733-48_733-47del | |
| NM_000257.4:c.733-48_733-47del MANE Select | NP_000248.2:n.733-48_733-47del |