gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31182009_31182014del , CM000678.2:g.31182009_31182014del | GRCh38 |
| NC_000016.9:g.31193330_31193335del , CM000678.1:g.31193330_31193335del | GRCh37 |
| NC_000016.8:g.31100831_31100836del | NCBI36 |
| NG_012889.2:g.6878_6883del , LRG_655:g.6878_6883del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.14-389_14-384del MANE Select | ENSP00000254108.8:n.14-389_14-384del | |
| ENST00000254108.11:c.14-389_14-384del | ENSP00000254108.7:n.14-389_14-384del | |
| ENST00000380244.7:c.14-389_14-384del | ENSP00000369594.3:n.14-389_14-384del | |
| ENST00000487045.6:n.90-389_90-384del | ||
| ENST00000487509.6:n.79-389_79-384del | ||
| ENST00000566605.5:c.14-389_14-384del | ENSP00000455073.1:n.14-389_14-384del | |
| ENST00000568685.1:c.14-389_14-384del | ENSP00000455282.1:n.14-389_14-384del | |
| NM_001170634.1:c.14-389_14-384del | NP_001164105.1:n.14-389_14-384del | |
| NM_001170937.1:c.14-389_14-384del | NP_001164408.1:n.14-389_14-384del | |
| NM_004960.3:c.14-389_14-384del , LRG_655t1:c.14-389_14-384del | NP_004951.1:n.14-389_14-384del | |
| NR_028388.2:n.119-389_119-384del | ||
| XM_005255233.3:c.-564-389_-564-384del | XP_005255290.1:n.-564-389_-564-384del | |
| XM_011545781.1:c.14-389_14-384del | XP_011544083.1:n.14-389_14-384del | |
| XM_005255233.5:c.-564-389_-564-384del | XP_005255290.1:n.-564-389_-564-384del | |
| XM_024450221.1:c.14-389_14-384del | XP_024305989.1:n.14-389_14-384del | |
| NM_004960.4:c.14-389_14-384del MANE Select | NP_004951.1:n.14-389_14-384del |