ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.134661568del , CM000669.2:g.134661568del | GRCh38 |
| NC_000007.13:g.134346320del , CM000669.1:g.134346320del | GRCh37 |
| NC_000007.12:g.133996860del | NCBI36 |
| NG_012921.1:g.19790del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344924.8:c.61del MANE Select | ENSP00000342032.3:p.Arg21ValfsTer28 | |
| ENST00000344924.7:c.61del | ENSP00000342032.3:p.Arg21ValfsTer28 | |
| ENST00000393132.2:c.61del | ENSP00000376840.2:p.Arg21ValfsTer28 | |
| ENST00000418040.5:c.61del | ENSP00000399838.1:p.Arg21ValfsTer28 | |
| ENST00000443095.1:c.61del | ENSP00000403050.1:p.Arg21ValfsTer28 | |
| NM_001293085.1:c.61del | NP_001280014.1:p.Arg21ValfsTer28 | |
| NM_001724.4:c.61del | NP_001715.1:p.Arg21ValfsTer28 | |
| NM_199186.2:c.61del | NP_954655.1:p.Arg21ValfsTer28 | |
| XM_011516527.1:c.61del | XP_011514829.1:p.Arg21ValfsTer28 | |
| XR_928017.1:n.6821-432del | ||
| XM_011516527.2:c.61del | XP_011514829.1:p.Arg21ValfsTer28 | |
| NM_001724.5:c.61del MANE Select | NP_001715.1:p.Arg21ValfsTer28 | |
| NM_001293085.2:c.61del | NP_001280014.1:p.Arg21ValfsTer28 | |
| NM_199186.3:c.61del | NP_954655.1:p.Arg21ValfsTer28 |