Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860477del , CM000668.2:g.31860477del | GRCh38 |
| NC_000006.11:g.31828254del , CM000668.1:g.31828254del | GRCh37 |
| NC_000006.10:g.31936233del | NCBI36 |
| NG_008201.1:g.7458del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.762del MANE Select | ENSP00000364782.4:p.Lys255SerfsTer? | |
| ENST00000677054.1:n.2005del | ||
| ENST00000677512.1:n.870del | ||
| ENST00000678869.1:n.1436del | ||
| ENST00000375631.4:c.762del | ENSP00000364782.4:p.Lys255SerfsTer? | |
| ENST00000480384.1:n.791del | ||
| ENST00000491768.5:c.762del | ENSP00000433127.1:p.Lys255SerfsTer? | |
| ENST00000495807.1:n.1896del | ||
| NM_000434.3:c.762del | NP_000425.1:p.Lys255SerfsTer? | |
| NM_000434.4:c.762del MANE Select | NP_000425.1:p.Lys255SerfsTer? |