Linked Data
gnomAD v3:
11-128891423-CACACACACACACACACACAGAGAG-C
gnomAD v4:
11-128891423-CACACACACACACACACACAGAGAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891425_128891448del , CM000673.2:g.128891425_128891448del | GRCh38 |
| NC_000011.9:g.128761320_128761343del , CM000673.1:g.128761320_128761343del | GRCh37 |
| NC_000011.8:g.128266530_128266553del | NCBI36 |
| NG_023406.2:g.5008_5031del , LRG_333:g.5008_5031del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-307_-284del MANE Select | ENSP00000433295.1:n.-307_-284del | |
| ENST00000529694.5:c.-307_-284del | ENSP00000433295.1:n.-307_-284del | |
| NM_000890.3:c.-307_-284del , LRG_333t1:c.-307_-284del | NP_000881.3:n.-307_-284del | |
| NM_000890.4:c.-307_-284del | NP_000881.3:n.-307_-284del | |
| NM_001354169.1:c.-396_-373del | NP_001341098.1:n.-396_-373del | |
| NM_000890.5:c.-307_-284del MANE Select | NP_000881.3:n.-307_-284del | |
| NM_001354169.2:c.-396_-373del | NP_001341098.1:n.-396_-373del |