ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044792_17044796del , CM000663.2:g.17044792_17044796del | GRCh38 |
| NC_000001.10:g.17371287_17371291del , CM000663.1:g.17371287_17371291del | GRCh37 |
| NC_000001.9:g.17243874_17243878del | NCBI36 |
| NG_012340.1:g.14376_14380del , LRG_316:g.14376_14380del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-6_-2del | ENSP00000481376.2:n.-6_-2del | |
| ENST00000491274.6:c.124_128del | ENSP00000480482.2:p.Pro42TyrfsTer5 | |
| ENST00000375499.8:c.166_170del MANE Select | ENSP00000364649.3:p.Pro56TyrfsTer5 | |
| ENST00000375499.7:c.166_170del | ENSP00000364649.3:p.Pro56TyrfsTer5 | |
| ENST00000463045.2:c.-6_-2del | ENSP00000481376.1:n.-6_-2del | |
| ENST00000466613.2:n.178_182del | ||
| ENST00000475506.1:n.83_87del | ||
| ENST00000485515.5:n.154_158del | ||
| ENST00000491274.5:c.124_128del | ENSP00000480482.1:p.Pro42TyrfsTer5 | |
| NM_003000.2:c.166_170del , LRG_316t1:c.166_170del | NP_002991.2:p.Pro56TyrfsTer5 | |
| NM_003000.3:c.166_170del MANE Select | NP_002991.2:p.Pro56TyrfsTer5 |