Linked Data
gnomAD v4:
12-69353561-TCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353563_69353564del , CM000674.2:g.69353563_69353564del | GRCh38 |
| NC_000012.11:g.69747343_69747344del , CM000674.1:g.69747343_69747344del | GRCh37 |
| NC_000012.10:g.68033610_68033611del | NCBI36 |
| NG_008195.1:g.10210_10211del , LRG_768:g.10210_10211del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*344_*345del MANE Select | ENSP00000261267.2:n.*344_*345del | |
| ENST00000261267.6:c.*344_*345del | ENSP00000261267.2:n.*344_*345del | |
| NM_000239.2:c.*344_*345del , LRG_768t1:c.*344_*345del | NP_000230.1:n.*344_*345del | |
| NM_000239.3:c.*344_*345del MANE Select | NP_000230.1:n.*344_*345del |