Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190408320del , CM000665.2:g.190408320del | GRCh38 |
| NC_000003.11:g.190126109del , CM000665.1:g.190126109del | GRCh37 |
| NC_000003.10:g.191608803del | NCBI36 |
| NG_008149.1:g.25269del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264734.3:c.389del MANE Select | ENSP00000264734.3:p.Pro130GlnfsTer? | |
| ENST00000456423.2:c.115-1583del | ENSP00000414136.2:n.115-1583del | |
| ENST00000264734.2:c.599del | ENSP00000264734.2:p.Pro200GlnfsTer? | |
| ENST00000456423.1:c.325-1583del | ENSP00000414136.1:n.325-1583del | |
| NM_006580.3:c.599del | NP_006571.1:p.Pro200GlnfsTer? | |
| NM_001378492.1:c.389del | NP_001365421.1:p.Pro130GlnfsTer? | |
| NM_001378493.1:c.389del | NP_001365422.1:p.Pro130GlnfsTer? | |
| NM_006580.4:c.389del MANE Select | NP_006571.2:p.Pro130GlnfsTer? |