Linked Data
gnomAD v4:
12-69353549-C-CTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353549_69353550insTT , CM000674.2:g.69353549_69353550insTT | GRCh38 |
| NC_000012.11:g.69747329_69747330insTT , CM000674.1:g.69747329_69747330insTT | GRCh37 |
| NC_000012.10:g.68033596_68033597insTT | NCBI36 |
| NG_008195.1:g.10196_10197insTT , LRG_768:g.10196_10197insTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*330_*331insTT MANE Select | ENSP00000261267.2:n.*330_*331insTT | |
| ENST00000261267.6:c.*330_*331insTT | ENSP00000261267.2:n.*330_*331insTT | |
| NM_000239.2:c.*330_*331insTT , LRG_768t1:c.*330_*331insTT | NP_000230.1:n.*330_*331insTT | |
| NM_000239.3:c.*330_*331insTT MANE Select | NP_000230.1:n.*330_*331insTT |