Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87614467del , CM000666.2:g.87614467del | GRCh38 |
| NC_000004.11:g.88535619del , CM000666.1:g.88535619del | GRCh37 |
| NC_000004.10:g.88754643del | NCBI36 |
| NG_011595.1:g.10939del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014208.3:c.1805del MANE Select | NP_055023.2:p.Ser602MetfsTer? |
| ENST00000651931.1:c.1805del MANE Select | ENSP00000498766.1:p.Ser602MetfsTer? |
| ENST00000282478.7:c.1805del | ENSP00000282478.7:p.Ser602MetfsTer? |
| ENST00000399271.5:c.1805del | ENSP00000382213.1:p.Ser602MetfsTer? |