Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981214del , CM000667.2:g.149981214del | GRCh38 |
| NC_000005.9:g.149360777del , CM000667.1:g.149360777del | GRCh37 |
| NC_000005.8:g.149340970del | NCBI36 |
| NG_007147.2:g.22332del , LRG_684:g.22332del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.1621del MANE Select | ENSP00000286298.4:p.Cys541ValfsTer? | |
| ENST00000286298.4:c.1621del | ENSP00000286298.4:p.Cys541ValfsTer? | |
| ENST00000503336.1:c.372+2863del | ENSP00000426053.1:n.372+2863del | |
| NM_000112.3:c.1621del , LRG_684t1:c.1621del | NP_000103.2:p.Cys541ValfsTer? | |
| XM_017009191.2:c.1621del | XP_016864680.1:p.Cys541ValfsTer? | |
| NM_000112.4:c.1621del MANE Select | NP_000103.2:p.Cys541ValfsTer? |