MyVariant.info:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352749_133352752del , CM000671.2:g.133352749_133352752del | GRCh38 |
| NC_000009.10:g.135209425_135209428del | NCBI36 |
| NG_008477.1:g.8757_8760del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.532_535del MANE Select | ENSP00000361042.3:p.Asn178GlufsTer9 | |
| ENST00000371974.7:c.532_535del | ENSP00000361042.3:p.Asn178GlufsTer9 | |
| ENST00000437995.1:n.462-20_462-17del | ||
| ENST00000495952.5:n.522_525del | ||
| ENST00000615505.4:c.205_208del | ENSP00000482067.1:p.Asn69GlufsTer9 | |
| NM_001280787.1:c.205_208del | NP_001267716.1:p.Asn69GlufsTer9 | |
| NM_003172.3:c.532_535del | NP_003163.1:p.Asn178GlufsTer9 | |
| XM_011518942.1:c.205_208del | XP_011517244.1:p.Asn69GlufsTer9 | |
| NM_003172.4:c.532_535del MANE Select | NP_003163.1:p.Asn178GlufsTer9 |