Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860569_31860593del , CM000668.2:g.31860569_31860593del | GRCh38 |
| NC_000006.11:g.31828346_31828370del , CM000668.1:g.31828346_31828370del | GRCh37 |
| NC_000006.10:g.31936325_31936349del | NCBI36 |
| NG_008201.1:g.7340_7364del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375631.5:c.644_668del MANE Select | ENSP00000364782.4:p.Leu215ArgfsTer? | |
| ENST00000677054.1:n.1887_1911del | ||
| ENST00000677512.1:n.752_776del | ||
| ENST00000678869.1:n.1318_1342del | ||
| ENST00000375631.4:c.644_668del | ENSP00000364782.4:p.Leu215ArgfsTer? | |
| ENST00000480384.1:n.673_697del | ||
| ENST00000491768.5:c.644_668del | ENSP00000433127.1:p.Leu215ArgfsTer? | |
| ENST00000495807.1:n.1778_1802del | ||
| NM_000434.3:c.644_668del | NP_000425.1:p.Leu215ArgfsTer? | |
| NM_000434.4:c.644_668del MANE Select | NP_000425.1:p.Leu215ArgfsTer? |