Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120627150_120627151insACTG , CM000685.2:g.120627150_120627151insACTG | GRCh38 |
| NC_000023.10:g.119761005_119761006insACTG , CM000685.1:g.119761005_119761006insACTG | GRCh37 |
| NC_000023.9:g.119645033_119645034insACTG | NCBI36 |
| NG_016219.1:g.8000_8001insCAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304661.6:c.16_17insCAGT MANE Select | ENSP00000304364.5:p.Ser6ThrfsTer25 | |
| ENST00000304661.5:c.16_17insCAGT | ENSP00000304364.5:p.Ser6ThrfsTer25 | |
| ENST00000371313.2:c.16_17insCAGT | ENSP00000360363.2:p.Ser6ThrfsTer25 | |
| NM_001011551.2:c.16_17insCAGT | NP_001011551.1:p.Ser6ThrfsTer25 | |
| NM_152692.4:c.16_17insCAGT | NP_689905.1:p.Ser6ThrfsTer25 | |
| NM_001011551.3:c.16_17insCAGT MANE Select | NP_001011551.1:p.Ser6ThrfsTer25 | |
| NM_152692.5:c.16_17insCAGT | NP_689905.1:p.Ser6ThrfsTer25 |