Linked Data
gnomAD v4:
2-232523704-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232523708del , CM000664.2:g.232523708del | GRCh38 |
| NC_000002.11:g.233388418del , CM000664.1:g.233388418del | GRCh37 |
| NC_000002.10:g.233096662del | NCBI36 |
| NG_008028.1:g.2497del | |
| NG_031969.1:g.8246del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617714.2:c.1013-64del MANE Select | ENSP00000479745.1:n.1013-64del | |
| ENST00000449534.6:c.1013-61del | ENSP00000473410.1:n.1013-61del | |
| ENST00000617714.1:c.1013-64del | ENSP00000479745.1:n.1013-64del | |
| NM_001195129.1:c.1013-64del | NP_001182058.1:n.1013-64del | |
| NM_001195129.2:c.1013-64del MANE Select | NP_001182058.1:n.1013-64del | |
| NM_001369848.1:c.1013-61del | NP_001356777.1:n.1013-61del |